Reviewed, UniProtKB/Swiss-Prot Q15327 (ANKR1_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat domain-containing protein 1
Alternative name(s):
    Cardiac ankyrin repeat protein
    Cytokine-inducible nuclear protein
    C-193

Gene names

Name:	ANKRD1
Synonyms:	C193, CARP, HA1A2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	319 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. Ref.1 Ref.2
Subunit structure	Interacts with YBX1 By similarity. Interacts with TTN/titin.
Subcellular location	Nucleus.
Tissue specificity	Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. Ref.1 Ref.2
Induction	By TNF, IL1A and parthenolide. Ref.1 Ref.2
Involvement in disease	Defects in ANKRD1 may be a cause of total anomalous pulmonary venous return (TAPVR) [MIM:106700]. TAPVR is a rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births. Ref.6
Miscellaneous	A chromosomal aberration in the region of ANKRD1 may be a cause of total anomalous pulmonary venous return (TAPVR) [MIM:106700]. Translocation t(10;21)(q23.31;q11.2). The translocation apparently alteres the expression pattern of nearby genes on chromosome 10 by means of a positional effect, and among the genes whose expression pattern is changed due to this chromosomal rearrangement, the ANKRD1 stood out as a plausible candidate gene for TAPVR pathogenesis. This rearrangement apparently does not disrupts any known genes.
Sequence similarities	Contains 5 ANK repeats.

Ontologies

Keywords
Cellular component	Nucleus
Disease	Disease mutation
Domain	ANK repeat Coiled coil Repeat
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	defense response Ref.1 Traceable author statement. Source: ProtInc signal transduction Ref.1 Traceable author statement. Source: ProtInc
Molecular function	DNA binding Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 319	319	Ankyrin repeat domain-containing protein 1		PRO_0000240479
Regions
	Repeat	152 – 181	30	ANK 1
	Repeat	185 – 214	30	ANK 2
	Repeat	218 – 247	30	ANK 3
	Repeat	251 – 280	30	ANK 4
	Repeat	284 – 315	32	ANK 5
	Coiled coil	61 – 89	29	Potential
Natural variations
	Natural variant	116	1	T → M in TAPVR. Ref.6		VAR_047112
Experimental info
	Sequence conflict	71	1	K → P in CAA58676. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q15327-1 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: 9AD91D2B1344A235	FASTA	319	36,252
	10 20 30 40 50 60 MMVLKVEELV TGKKNGNGEA GEFLPEDFRD GEYEAAVTLE KQEDLKTLLA HPVTLGEQQW 70 80 90 100 110 120 KSEKQREAEL KKKKLEQRSK LENLEDLEII IQLKKRKKYR KTKVPVVKEP EPEIITEPVD 130 140 150 160 170 180 VPTFLKAALE NKLPVVEKFL SDKNNPDVCD EYKRTALHRA CLEGHLAIVE KLMEAGAQIE 190 200 210 220 230 240 FRDMLESTAI HWASRGGNLD VLKLLLNKGA KISARDKLLS TALHVAVRTG HYECAEHLIA 250 260 270 280 290 300 CEADLNAKDR EGDTPLHDAV RLNRYKMIRL LIMYGADLNI KNCAGKTPMD LVLHWQNGTK 310 AIFDSLRENS YKTSRIATF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a novel cytokine-inducible nuclear protein from human endothelial cells." Chu W., Burns D.K., Swerlick R.A., Presky D.H. J. Biol. Chem. 270:10236-10245(1995) [PubMed: 7730328] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION BY TNF AND IL1A, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION. Tissue: Skin.
[2]	"Identification of the genes involved in enhanced fenretinide-induced apoptosis by parthenolide in human hepatoma cells." Park J.-H., Liu L., Kim I.-H., Kim J.-H., You K.-R., Kim D.-G. Cancer Res. 65:2804-2814(2005) [PubMed: 15805281] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION BY PARTHELONIDE, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[3]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skeletal muscle.
[5]	"The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules." Miller M.K., Bang M.-L., Witt C.C., Labeit D., Trombitas C., Watanabe K., Granzier H., McElhinny A.S., Gregorio C.C., Labeit S. J. Mol. Biol. 333:951-964(2003) [PubMed: 14583192] [Abstract] Cited for: INTERACTION WITH TTN.
[6]	"Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return." Cinquetti R., Badi I., Campione M., Bortoletto E., Chiesa G., Parolini C., Camesasca C., Russo A., Taramelli R., Acquati F. Hum. Mutat. 29:468-474(2008) [PubMed: 18273862] [Abstract] Cited for: VARIANT TAPVR MET-116.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	X83703 mRNA. Translation: CAA58676.1. AY903446 mRNA. Translation: AAX23581.1. AL590622 Genomic DNA. Translation: CAC70101.1. BC018667 mRNA. Translation: AAH18667.1.
IPI	IPI00004294.
PIR	A57291.
RefSeq	NP_055206.2.
UniGene	Hs.448589
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q15327.
Proteomic databases
PRIDE	Q15327.
Genome annotation databases
Ensembl	ENST00000371697; ENSP00000360762; ENSG00000148677; Homo sapiens. [Genome view]
GeneID	27063.
KEGG	hsa:27063.
UCSC	uc001khe.1. human.
Organism-specific databases
CTD	27063.
GeneCards	GC10M092661.
HGNC	HGNC:15819. ANKRD1.
MIM	106700. phenotype. 609599. gene.
PharmGKB	PA134882768.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q15327.
HOVERGEN	Q15327.
OMA	WACRGGN
OrthoDB	EOG9HDWCW
Gene expression databases
ArrayExpress	Q15327.
Bgee	Q15327.
CleanEx	HS_ANKRD1.
Genevestigator	Q15327.
GermOnline	ENSG00000148677. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 5 hits. [Graphical view]
SMART	SM00248. ANK. 4 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	49630.
SOURCE	Search...

Entry information

Entry name

ANKR1_HUMAN

Accession

Primary (citable) accession number: Q15327
Secondary accession number(s): Q96LE7

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	June 27, 2006
Last modified:	November 24, 2009
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.