Home |
Help |
Advanced search
2025-05-09 17:28:03, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001142446 8486 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9,
mRNA.
ACCESSION NM_001142446
VERSION NM_001142446.1 GI:215598573
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 8486)
AUTHORS Harder,M.N., Ribel-Madsen,R., Justesen,J.M., Sparso,T.,
Andersson,E.A., Grarup,N., Jorgensen,T., Linneberg,A., Hansen,T.
and Pedersen,O.
TITLE Type 2 diabetes risk alleles near BCAR1 and in ANK1 associate with
decreased beta-cell function whereas risk alleles near ANKRD55 and
GRB14 associate with decreased insulin sensitivity in the Danish
Inter99 cohort
JOURNAL J. Clin. Endocrinol. Metab. 98 (4), E801-E806 (2013)
PUBMED 23457408
REMARK GeneRIF: ANK1 rs516946 confers impaired insulin release.
REFERENCE 2 (bases 1 to 8486)
AUTHORS Stefanovic,M., Puchulu-Campanella,E., Kodippili,G. and Low,P.S.
TITLE Oxygen regulates the band 3-ankyrin bridge in the human erythrocyte
membrane
JOURNAL Biochem. J. 449 (1), 143-150 (2013)
PUBMED 23013433
REMARK GeneRIF: The ankyrin-binding site on band 3 is located near the
deoxygenated hemoglobin-binding site, therefore following
deoxygenation ankyrin is displaced from band 3.
REFERENCE 3 (bases 1 to 8486)
AUTHORS Yocum,A.O., Steiner,L.A., Seidel,N.E., Cline,A.P., Rout,E.D.,
Lin,J.Y., Wong,C., Garrett,L.J., Gallagher,P.G. and Bodine,D.M.
TITLE A tissue-specific chromatin loop activates the erythroid ankyrin-1
promoter
JOURNAL Blood 120 (17), 3586-3593 (2012)
PUBMED 22968456
REMARK GeneRIF: A tissue-specific chromatin loop brings NF-E2 and ANK1E
into close proximity preventing gene silencing and mutagenesis
leading to hereditary spherocytosis.
REFERENCE 4 (bases 1 to 8486)
AUTHORS Imamura M, Maeda S, Yamauchi T, Hara K, Yasuda K, Morizono T,
Takahashi A, Horikoshi M, Nakamura M, Fujita H, Tsunoda T, Kubo M,
Watada H, Maegawa H, Okada-Iwabu M, Iwabu M, Shojima N, Ohshige T,
Omori S, Iwata M, Hirose H, Kaku K, Ito C, Tanaka Y, Tobe K,
Kashiwagi A, Kawamori R, Kasuga M, Kamatani N, Nakamura Y and
Kadowaki T.
CONSRTM Diabetes Genetics Replication and Meta-analysis (DIAGRAM)
Consortium
TITLE A single-nucleotide polymorphism in ANK1 is associated with
susceptibility to type 2 diabetes in Japanese populations
JOURNAL Hum. Mol. Genet. 21 (13), 3042-3049 (2012)
PUBMED 22456796
REMARK GeneRIF: results indicate that the ANK1 locus is a new, common
susceptibility locus for type 2 diabetes across different ethnic
groups
REFERENCE 5 (bases 1 to 8486)
AUTHORS Lange,S., Perera,S., Teh,P. and Chen,J.
TITLE Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1
(sAnk1.5) protein turnover
JOURNAL Mol. Biol. Cell 23 (13), 2490-2504 (2012)
PUBMED 22573887
REMARK GeneRIF: The interaction of KCTD6 with ankyrin-1 may have
implications beyond muscle for hereditary spherocytosis, as KCTD6
is also present in erythrocytes, and erythrocyte ankyrin isoforms
contain its mapped minimal binding site.
REFERENCE 6 (bases 1 to 8486)
AUTHORS Fujimoto,T., Lee,K., Miwa,S. and Ogawa,K.
TITLE Immunocytochemical localization of fodrin and ankyrin in bovine
chromaffin cells in vitro
JOURNAL J. Histochem. Cytochem. 39 (11), 1485-1493 (1991)
PUBMED 1833445
REFERENCE 7 (bases 1 to 8486)
AUTHORS Lux,S.E., John,K.M. and Bennett,V.
TITLE Analysis of cDNA for human erythrocyte ankyrin indicates a repeated
structure with homology to tissue-differentiation and cell-cycle
control proteins
JOURNAL Nature 344 (6261), 36-42 (1990)
PUBMED 2137557
REFERENCE 8 (bases 1 to 8486)
AUTHORS Lambert,S., Yu,H., Prchal,J.T., Lawler,J., Ruff,P., Speicher,D.,
Cheung,M.C., Kan,Y.W. and Palek,J.
TITLE cDNA sequence for human erythrocyte ankyrin
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (5), 1730-1734 (1990)
PUBMED 1689849
REFERENCE 9 (bases 1 to 8486)
AUTHORS Bennett,V.
TITLE Immunoreactive forms of human erythrocyte ankyrin are present in
diverse cells and tissues
JOURNAL Nature 281 (5732), 597-599 (1979)
PUBMED 492324
REFERENCE 10 (bases 1 to 8486)
AUTHORS Bennett,V. and Stenbuck,P.J.
TITLE The membrane attachment protein for spectrin is associated with
band 3 in human erythrocyte membranes
JOURNAL Nature 280 (5722), 468-473 (1979)
PUBMED 379653
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC027702.18, AB209418.1,
X16609.1, AC113133.5 and N63745.1.
This sequence is a reference standard in the RefSeqGene project.
Summary: Ankyrins are a family of proteins that link the integral
membrane proteins to the underlying spectrin-actin cytoskeleton and
play key roles in activities such as cell motility, activation,
proliferation, contact and the maintenance of specialized membrane
domains. Multiple isoforms of ankyrin with different affinities for
various target proteins are expressed in a tissue-specific,
developmentally regulated manner. Most ankyrins are typically
composed of three structural domains: an amino-terminal domain
containing multiple ankyrin repeats; a central region with a highly
conserved spectrin binding domain; and a carboxy-terminal
regulatory domain which is the least conserved and subject to
variation. Ankyrin 1, the prototype of this family, was first
discovered in the erythrocytes, but since has also been found in
brain and muscles. Mutations in erythrocytic ankyrin 1 have been
associated in approximately half of all patients with hereditary
spherocytosis. Complex patterns of alternative splicing in the
regulatory domain, giving rise to different isoforms of ankyrin 1
have been described. Truncated muscle-specific isoforms of ankyrin
1 resulting from usage of an alternate promoter have also been
identified. [provided by RefSeq, Dec 2008].
Transcript Variant: This variant (9) has an alternate upstream 5'
exon, which includes an AUG start codon, and has an additional exon
in the middle region, but lacks a segment in the 3' coding region,
compared to variant 1. The reading frame is not affected and the
resulting isoform (9) is the longest, which has a distinct
N-terminus and an internal additional segment as well as lacks a
segment in the C-terminal region, compared to isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AB209418.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-93 AC027702.18 3683-3775
94-3317 AB209418.1 94-3317
3318-3628 X16609.1 2997-3307
3629-4412 AB209418.1 3629-4412
4413-4505 X16609.1 4092-4184
4506-6379 AB209418.1 4506-6379
6380-8442 AC113133.5 6296-8358 c
8443-8486 N63745.1 1-44 c
FEATURES Location/Qualifiers
source 1..8486
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8p11.1"
gene 1..8486
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="ankyrin 1, erythrocytic"
/db_xref="GeneID:286"
/db_xref="HGNC:492"
/db_xref="MIM:612641"
exon 1..408
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
misc_feature 274..276
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="upstream in-frame stop codon"
CDS 283..5976
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="isoform 9 is encoded by transcript variant 9;
ankyrin-R; ankyrin-1; ANK-1; erythrocyte ankyrin"
/codon_start=1
/product="ankyrin-1 isoform 9"
/protein_id="NP_001135918.1"
/db_xref="GI:215598574"
/db_xref="CCDS:CCDS47849.1"
/db_xref="GeneID:286"
/db_xref="HGNC:492"
/db_xref="MIM:612641"
/translation="
MAQAAKQLKKIKDIEAQALQEQKEKEESNRKRRNRSRDRKKKADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKMVVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANVNAQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPLHIAAHYENLNVAQLLLNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQAKTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDKGAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIVKNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARIGHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEKEASQACMTKKGFTPLHVAAKYGKVRVAELLLERDAHPNAAGKNGLTPLHVAVHHNNLDIVKLLLPRGGSPHSPAWNGYTPLHIAAKQNQVEVARSLLQYGGSANAESVQGVTPLHLAAQEGHAEMVALLLSKQANGNLGNKSGLTPLHLVAQEGHVPVADVLIKHGVMVDATTRMGYTPLHVASHYGNIKLVKFLLQHQADVNAKTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSDGTTPLAIAKRLGYISVTDVLKVVTDETSFVLVSDKHRMSFPETVDEILDVSEDEGTAHITIMGEELISFKAERRDSRDVDEEKELLDFVPKLDQVVESPAIPRIPCAMPETVVIRSEEQEQASKEYDEDSLIPSSPATETSDNISPVASPVHTGFLVSFMVDARGGSMRGSRHNGLRVVIPPRTCAAPTRITCRLVKPQKLSTPPPLAEEEGLASRIIALGPTGAQFLSPVIVEIPHFASHGRGDRELVVLRSENGSVWKEHRSRYGESYLDQILNGMDEELGSLEELEKKRVCRIITTDFPLYFVIMSRLCQDYDTIGPEGGSLKSKLVPLVQATFPENAVTKRVKLALQAQPVPDELVTKLLGNQATFSPIVTVEPRRRKFHRPIGLRIPLPPSWTDNPRDSGEGDTTSLRLLCSVIGGTDQAQWEDITGTTKLVYANECANFTTNVSARFWLSDCPRTAEAVNFATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYCMTDDKVDKTLEQHENFVEVARSRDIEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRENRLAMPVKVRDSSREPGGSLSFLRKAMKYEDTQHILCHLNITMPPCAKGSGAEDRRRTPTPLALRYSILSESTPGSLSGTEQAEMKMAVISEHLGLSWAELARELQFSVEDINRIRVENPNSLLEQSVALLNLWVIREGQNANMENLYTALQSIDRGEIVNMLEGSGRQSRNLKPDRRHTDRDYSLSPSQMNGYSSLQDELLSPASLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTMLEMSDMQVWSAGLTPSLVTAEDSSLECSKAEDSDATGHEWKLEGALSEEPRGPELGSLELVEDDTVDSDATNGLIDLLEQEEGQRSEEKLPGSKRQDDATGAGQDSENEVSLVSGHQRGQARITHSPTVSQVTERSQDRLQDWDADGSIVSYLQDAAQGSWQEEVTQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGNEFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEDHTSTPNP
"
misc_feature 421..576
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (many copies); Region: Ank_4;
pfam13637"
/db_xref="CDD:205814"
misc_feature 496..873
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="ankyrin repeats; ankyrin repeats mediate
protein-protein interactions in very diverse families of
proteins. The number of ANK repeats in a protein can range
from 2 to over 20 (ankyrins, for example). ANK repeats may
occur in combinations with other...; Region: ANK; cd00204"
/db_xref="CDD:29261"
misc_feature 526..798
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 910..1185
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 979..1356
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="ankyrin repeats; ankyrin repeats mediate
protein-protein interactions in very diverse families of
proteins. The number of ANK repeats in a protein can range
from 2 to over 20 (ankyrins, for example). ANK repeats may
occur in combinations with other...; Region: ANK; cd00204"
/db_xref="CDD:29261"
misc_feature 1108..1377
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 1306..1581
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 1375..1752
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="ankyrin repeats; ankyrin repeats mediate
protein-protein interactions in very diverse families of
proteins. The number of ANK repeats in a protein can range
from 2 to over 20 (ankyrins, for example). ANK repeats may
occur in combinations with other...; Region: ANK; cd00204"
/db_xref="CDD:29261"
misc_feature 1591..1752
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (many copies); Region: Ank_4;
pfam13637"
/db_xref="CDD:205814"
misc_feature 1702..1962
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 1786..2148
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="ankyrin repeats; ankyrin repeats mediate
protein-protein interactions in very diverse families of
proteins. The number of ANK repeats in a protein can range
from 2 to over 20 (ankyrins, for example). ANK repeats may
occur in combinations with other...; Region: ANK; cd00204"
/db_xref="CDD:29261"
misc_feature 1900..2169
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 2068..2445
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="ankyrin repeats; ankyrin repeats mediate
protein-protein interactions in very diverse families of
proteins. The number of ANK repeats in a protein can range
from 2 to over 20 (ankyrins, for example). ANK repeats may
occur in combinations with other...; Region: ANK; cd00204"
/db_xref="CDD:29261"
misc_feature 2185..2346
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (many copies); Region: Ank_4;
pfam13637"
/db_xref="CDD:205814"
misc_feature 2266..2643
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="ankyrin repeats; ankyrin repeats mediate
protein-protein interactions in very diverse families of
proteins. The number of ANK repeats in a protein can range
from 2 to over 20 (ankyrins, for example). ANK repeats may
occur in combinations with other...; Region: ANK; cd00204"
/db_xref="CDD:29261"
misc_feature 2296..2571
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (3 copies); Region: Ank_2;
pfam12796"
/db_xref="CDD:205076"
misc_feature 2539..2703
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Ankyrin repeats (many copies); Region: Ank_5;
pfam13857"
/db_xref="CDD:206028"
misc_feature 3136..3450
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Domain present in ZO-1 and Unc5-like netrin
receptors; Region: ZU5; smart00218"
/db_xref="CDD:128514"
misc_feature 4606..4857
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/note="Death domain of Ankyrin-1; Region: Death_ank1;
cd08805"
/db_xref="CDD:176783"
exon 409..510
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 511..609
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 610..708
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 696
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2304871"
exon 709..807
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 808..993
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 870
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34173100"
variation 978
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2304873"
exon 994..1092
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 1093..1191
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 1192..1290
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 1291..1488
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 1489..1587
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 1588..1686
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 1687..1785
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 1786..1983
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 1887
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34387324"
exon 1984..2082
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 2083..2181
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 2182..2379
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 2237
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2304877"
exon 2380..2478
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 2454
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1137177"
exon 2479..2577
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 2578..2676
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 2592
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:34194642"
exon 2677..2769
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 2730
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2304880"
exon 2770..2842
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 2843..2866
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 2867..2963
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 2900
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:34523608"
exon 2964..3042
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 3043..3140
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 3141..3365
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 3235
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35797405"
variation 3318
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:504574"
variation 3351
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1137178"
exon 3366..3520
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 3375
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34969689"
exon 3521..3732
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 3629
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35213384"
exon 3733..3937
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 3781
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:504465"
variation 3891
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35964634"
exon 3938..4034
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 3979
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:486770"
exon 4035..4263
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 4264..4389
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 4390..4509
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 4510..4588
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 4589..4663
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 4664..4795
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 4790
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34664882"
exon 4796..4942
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 4911
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34265667"
exon 4943..5501
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
variation 5041
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1060130"
exon 5502..5799
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 5800..5883
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 5884..5949
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
exon 5950..8478
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/inference="alignment:Splign:1.39.8"
STS 6095..6370
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/standard_name="SHGC-132081"
/db_xref="UniSTS:170634"
STS 6106..6369
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/standard_name="RH69660"
/db_xref="UniSTS:24338"
variation 6383
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201295961"
STS 6522..6627
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/standard_name="GDB:178523"
/db_xref="UniSTS:66432"
STS 6523..6708
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/standard_name="D8S2329"
/db_xref="UniSTS:31321"
STS 6871..7203
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/standard_name="SHGC-12309"
/db_xref="UniSTS:21118"
variation 7483..7484
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:517309"
variation 8065
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:543817"
STS 8093..8259
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
/standard_name="RH91316"
/db_xref="UniSTS:91775"
polyA_signal 8456..8461
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
polyA_site 8478
/gene="ANK1"
/gene_synonym="ANK; SPH1; SPH2"
ORIGIN
gggaggcggcgggccctgcccagagcccgtcccgggcgccggcaagcgagctccggccgcggcggcagcgccatcccgggccgcgggcagccgcccctcgccctccgcgtccggaactgccttcgccttcccgcgaccccgcagcagccggccctcggggcgccacgaacgctgtcccctctgtggagcagagacccccttccccttcttagggggtgtcgcctcggggatcgctgagcgctaggggtccaggaggcggggacgggagcgccgtgacccgccatggctcaagcggccaaacagctgaagaaaatcaaagacatcgaggcgcaggccctccaggagcagaaggagaaggaggaatccaacaggaagcggagaaaccgctcccgtgaccgaaagaagaaggccgatgctgctaccagctttctgagagcagcaagatcaggtaacttggacaaagctttggatcacctgcggaatggggtagatattaacacctgtaaccagaatgggttgaatggcttgcatctggcttctaaggaaggccatgtgaaaatggtggttgaacttctgcacaaagaaatcattctagaaacgacaaccaagaaggggaacacggccctgcacatcgctgctctagccgggcaggatgaggtggtccgggagcttgtcaactatggagccaacgtcaacgcccagtcacagaaaggttttacacccctgtacatggcagcacaagagaaccacttggaagtggttaagtttttactggaaaatggagctaaccagaatgtagccacagaagacggcttcacgcctctggcggtagccctgcagcagggccatgagaacgtcgtcgcgcacctcatcaactacggcaccaaggggaaggtgcgcctcccggccctgcacatcgcggcccgcaacgacgacacgcgcacggctgcggtgctgctgcagaacgaccccaacccggacgtgctttccaagacgggattcacgcccctgcacattgcggctcactacgagaacctcaacgtggcccagttgctcctcaacagaggagccagcgtcaatttcacaccacagaacggcatcacgccactgcacatcgcctcccgcaggggcaacgtgatcatggtgcggctgctgctggatcggggagcccagatagaaaccaagaccaaggacgaattgacacctctccactgtgcagctcgaaatgggcacgtgcgaatctcagagatcctgctggaccacggggcaccaatccaagccaaaaccaagaacggcctgtccccaattcacatggcggctcagggagaccacctcgactgtgtccggctcctgttgcaatacgacgcagagatagacgacatcaccctggaccacctgaccccactccacgtggctgcccactgtggacaccacagggtggctaaggtccttctggataaaggggccaaacccaactccagagccctgaatggctttacccccttacacatcgcctgcaaaaagaaccacgtccgtgtcatggagctgctgctgaagacgggagcctcgatcgacgcggtcaccgagtctggcctgacacctctccacgtggcctccttcatggggcaccttcccatcgtgaagaacctcctgcagcggggggcgtcgcccaacgtctccaacgtgaaagtggagaccccgctacacatggcagccagagccgggcacacggaagtggccaaatatttactccagaacaaagccaaagtcaatgccaaggccaaggatgaccagaccccacttcactgtgcagctcgcatcggccacacaaacatggtgaagctcctgctggaaaataacgccaaccccaacctggccaccaccgccgggcacacccccctgcacattgcagcccgtgagggccatgtggaaacagtcctggcccttctggaaaaggaagcatcccaggcctgcatgaccaagaaaggatttacccctctgcacgtggcggccaagtacgggaaggtgcgggtggcagagctgctgctggagcgggacgcacacccgaatgctgccggaaaaaatggcctgacccccctgcacgtggccgtccatcacaacaacctggacatcgtcaagctgctgcttccccggggcggctccccgcacagccctgcctggaatggctacacccctttgcacatcgctgccaagcagaaccaggtggaggtggcccgtagtctgctgcagtatgggggctcagcaaacgccgagtcggtgcaaggtgtgacgccccttcacctggccgcccaggagggccacgcagagatggtggctctgctgctctcgaaacaagccaatggcaacctggggaacaagagcggactcactcccctccatctggtagcacaagaaggccacgttccagtggcagatgtgctgatcaaacacggcgtcatggtggacgccaccacccggatgggctacactcccctccatgtggccagtcactatggaaacatcaagctggtgaagtttctgctgcagcaccaggcagatgtcaatgccaagaccaagctaggatacagccccctgcaccaggcagcccagcagggacacacagacatcgtgactctgcttctgaaaaacggtgcttccccaaacgaggtcagctcggatggaaccacacctctggccatagccaagcgcttgggctacatttctgtcaccgacgtgctcaaggtcgtcacggatgaaaccagtttcgtgttagtcagtgataagcatcgaatgagtttccctgagacagttgatgagatcctggatgtctcggaagatgaaggaactgctcatataactataatgggggaagaactcatcagcttcaaggctgagaggcgggattccagggatgttgatgaagagaaggagctgctggattttgtgccgaagctagaccaagtggtggaatctccagccatccccaggattccctgtgccatgcctgagacagtggtgatcaggtcagaagagcaggagcaggcatctaaagagtatgatgaggactccctcatccccagcagcccggccaccgagacctcagacaacatcagcccggtggccagcccggtgcatacagggtttctggtgagcttcatggttgacgcccggggtggttccatgagaggaagtcgccacaacggcctgcgagtggtgatcccgccacggacgtgcgcagcgcccacccgcatcacctgccgcctggtcaagccccagaagctcagcacgccgcccccactggccgaggaggagggcctggccagcaggatcatagcactggggcccacgggggcacagttcctgagccctgtaatcgtggagatcccgcactttgcctcccatggccgtggagaccgcgagctcgtggttctgaggagcgaaaacggctccgtgtggaaggagcacaggagccgctatggagagagctacctggatcagatcctcaacgggatggacgaagagctggggagcctggaggagctagagaagaagagggtgtgccgaatcatcaccaccgacttcccgctgtacttcgtgatcatgtcacggctctgccaggactacgacaccatcggtcccgaagggggctccctgaagagcaagctggtgcccctggtacaggcaacgttcccggagaatgccgtcaccaagagagtgaagctggctctgcaggcccagcctgtcccggatgagcttgtcactaagctcctgggcaaccaggccacattcagccccattgtcaccgtggagccccggcgccggaagttccaccgccccattgggcttcggatcccactacctccttcctggaccgacaacccgagggacagcggggagggagacaccaccagcctgcgcctgctttgcagcgtcattggaggaacagaccaagcccagtgggaagacataacaggaaccaccaaacttgtatatgccaacgagtgcgccaacttcaccaccaatgtctctgccaggttttggctgtcggactgtcctcggactgctgaggctgtgaactttgccaccctgctgtacaaagagctcactgcagtgccctacatggccaaattcgtcatctttgccaagatgaatgacccccgagaggggcgcctgcgctgctactgcatgacagatgataaagtggacaagaccctggagcagcatgagaacttcgtggaggtggcccggagcagggacatagaggtgttggaaggaatgtccctgtttgcagaactctctgggaacctggtgcctgtgaagaaagctgcccagcagcggagcttccacttccagtcatttcgggagaaccgtctggccatgcctgtaaaggtgagggacagcagtcgagagccgggagggtccctgtcgtttctgcgcaaggcgatgaagtacgaggacacccagcacattctctgccacctgaacatcaccatgcccccctgcgccaagggaagtggagccgaagataggagaaggaccccgacgcccctggccctgcgatacagcattctcagtgagtccacaccaggttctctcagtgggacagagcaggcagagatgaagatggctgttatctcagagcacctcggtctcagctgggcagagttggcccgggagctgcagttcagtgtggaagacatcaacaggatccgagtggaaaatcccaactccctgttggagcagagtgtggccttgctgaacctctgggtcatccgtgaaggccaaaacgcaaacatggagaatctgtacacagccctgcagagcattgaccgtggcgagatcgtgaacatgctggagggttccggccgacagagccgcaacttgaagccagacaggcggcacaccgaccgcgactactcgctgtcaccctcccagatgaatggttactcctcactgcaggacgagctgctgtcccctgcctccctgggctgtgcactttcctctccgctacgtgcagaccagtactggaatgaggtggccgtcctagacgccatccccttggcggccacggagcatgacaccatgctggagatgtctgacatgcaggtgtggtctgcgggcctcacgccttctctggtcactgctgaggactcctctctggagtgtagcaaggctgaggactctgatgccacaggtcacgagtggaagttggagggggcactctcagaggaaccgcggggccccgagttgggctctctggaacttgtggaggacgacacagtggattcagatgccacaaatggccttatcgatttgcttgaacaggaggaaggtcagaggtcagaagagaagctgccaggttctaagaggcaggatgacgcgacaggtgcagggcaggactcagagaatgaagtgtctcttgtttcaggccatcagagggggcaagcccgaatcacacattcccccaccgtgagtcaggtgacggagaggagtcaggacagactgcaggactgggatgcagacggctcgattgtctcatacctgcaagatgctgcacaaggttcctggcaagaggaggtcacgcaaggtccacactcattccagggaacaagtaccatgactgaagggctagagcccggtggatctcaggagtacgagaaggtcctggtgtctgtaagtgagcacacgtggacagaacagcccgaggctgagagctcccaggccgacagggaccggaggcagcaaggccaagaagagcaggtgcaggaggccaagaacaccttcacccaagtggtgcaggggaatgagtttcagaatattccaggggagcaggtgacagaggagcaattcacggatgagcagggcaacattgtcaccaagaagatcattcgcaaggtggttcgacagatagacttgtccagcgccgatgccgcccaggagcacgaggaggatcacacctcgacacccaacccctgaaccccacacactctgccatgcacacaggaggagagctggacctgagggccaccgcagcggtgcacacattcctctgggctgacggcatgacctctgtaagggactcctgctagtcccctcttggcatgaatgactgactgtagacgcatgacctccaggcttcaatcctgcctcttgcaatgacagctgatctgtcggaaccaggacacaaaagcagcaagaagcggggagagagagggatagaaaacaagcgcaggagagcctgcgaacgcaaaagtgaatgagggctttttgtggctggggatgggttttggttttggggttttttttttaaattgttttgacttcgtacagggtactttttcccaacctcatctgtcagaaatccatgtgggcttcctggaaagaaaaaaaaaaaaaagaaaactaggcatgaaatcagtttaacaccttaatcttaagccatgtcctcatctgcccaccctccccaacccacatacctccattccacttgtgacaccccctcgactccctggtgacgctcctcccagatcgctctacatgacattcaggacacacacacacacacacacacaccactcgcctccactgaatctacacacagattttactgtgacttctgaagctgtatagactctgctgtggataaattggaattttttatgttgtctctctctctgccaatttcaatacgaatcatcttccaatggaaaatcattaccttgaagagtgcattcggggttccttgtgttagggacttaagaatctgaggcgaggacccccaggcttacctgtaggactcaaagggagccaggaccccatctgaaagggtctcctctctcagttgggggacaggccggtggctgacccaggattgcaccagcatgtccatagagaagaggttttctatgtcttcaagcactatatcatagtccgtgttcaaagtgtaaactgtacagtaatcagccttgtgtatatgaaaaacaataaatactatgcaaaccaatagaaacatttagcagtacgtacagagcctgacagcgcagctcctgaggacttctgcggctgcaggagaaggagctgtggcctgtctttcagtgaaagaggaaggaaaggagtagggctagtgaatgtatctgccaggtcttagaagtcaggaccacccagggtctcccagagtgaacttggtgctctaagtccaggcagcctgcaggctggggaccctgggtgcaggtgccaggctcgaggctgttccctgtcctgcctcagtgcctcccctctgcccagcccctgtggcctcttggagaggcgagccagggggctccccggaccgcatggccggtgagagtagagtcggaggcggagagcctggacgcccagaggccggggccaggctctgggtcaaggcaggaaggagacagacagctggcagttcctcgcctcggtgccatcagggaggagccttaagttccactagagcctccggcccagggaggccagaatcagcacaatcccggccccgccctcgcggcgggcgcccccagggccaggagagagagacagggctggctcctctcgcccctggagccgcggtgtggacggcccggccccgtccgccccgccgctctgcgggagtgtcctcgggacacacttaaaccttccaagtagcacagaagccccctccacgtcagaggccccctggccgcggggcctgtgagcggagaggggccctgcttcccacacaaatccgccccggtgcacccccggccaggcaggccccggggcggcctaggcgccttgtcggccgggggtggggctgcttttgcttcctttagaggggcgggcagggagaggaagctctagctccgggcctgagtttccccgaggctgcgtcggaggagctgcagggcgagcccggacggctgccgtctccgccagaggccaccccggcccggcctccagggcgcagaggcgcccccctccatcctcccccatcccgggggccacggcaggggggccgcacagcgcggctgggaccgattcggtgacggcccaaggaagctgggctcagggctcgcctctcccgcctcgatcctgcaccttcctctcccaggtcgctgctgcagccaacccagtagcccccttagcgcccccgcggaccccgcagctccagactccgctttggcacctctgctccggctggcatggctgcacgctccggctgctagtaggagccgttaggggaggagtttggggtctccacacgatgcctagagaatgctgcagtctgcacattagacgctttttagaagttttgaaattaccttgatttttttaattgttatgaaaatggatcttttcttgactctcccacatgctctgttatgggagagaatcccctaccctactctgatgtatagaccattctcccttcaccagccgaaccaatgtcaaaattaataaagaaatggactaatggcaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:286 -> Molecular function: GO:0005198 [structural molecule activity] evidence: NAS
GeneID:286 -> Molecular function: GO:0005200 [structural constituent of cytoskeleton] evidence: TAS
GeneID:286 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:286 -> Molecular function: GO:0008093 [cytoskeletal adaptor activity] evidence: IDA
GeneID:286 -> Molecular function: GO:0008093 [cytoskeletal adaptor activity] evidence: TAS
GeneID:286 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI
GeneID:286 -> Molecular function: GO:0019899 [enzyme binding] evidence: TAS
GeneID:286 -> Molecular function: GO:0030507 [spectrin binding] evidence: IDA
GeneID:286 -> Molecular function: GO:0030507 [spectrin binding] evidence: IPI
GeneID:286 -> Molecular function: GO:0030507 [spectrin binding] evidence: NAS
GeneID:286 -> Molecular function: GO:0051117 [ATPase binding] evidence: IPI
GeneID:286 -> Biological process: GO:0006779 [porphyrin-containing compound biosynthetic process] evidence: IEA
GeneID:286 -> Biological process: GO:0006887 [exocytosis] evidence: NAS
GeneID:286 -> Biological process: GO:0006888 [ER to Golgi vesicle-mediated transport] evidence: IDA
GeneID:286 -> Biological process: GO:0007010 [cytoskeleton organization] evidence: NAS
GeneID:286 -> Biological process: GO:0007165 [signal transduction] evidence: IEA
GeneID:286 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
GeneID:286 -> Biological process: GO:0015672 [monovalent inorganic cation transport] evidence: IEA
GeneID:286 -> Biological process: GO:0045199 [maintenance of epithelial cell apical/basal polarity] evidence: TAS
GeneID:286 -> Biological process: GO:0048821 [erythrocyte development] evidence: IEA
GeneID:286 -> Biological process: GO:0072661 [protein targeting to plasma membrane] evidence: IMP
GeneID:286 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:286 -> Cellular component: GO:0005856 [cytoskeleton] evidence: NAS
GeneID:286 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:286 -> Cellular component: GO:0005886 [plasma membrane] evidence: NAS
GeneID:286 -> Cellular component: GO:0014731 [spectrin-associated cytoskeleton] evidence: IDA
GeneID:286 -> Cellular component: GO:0016323 [basolateral plasma membrane] evidence: NAS
GeneID:286 -> Cellular component: GO:0016529 [sarcoplasmic reticulum] evidence: IEA
GeneID:286 -> Cellular component: GO:0030863 [cortical cytoskeleton] evidence: IEA
GeneID:286 -> Cellular component: GO:0031430 [M band] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.