Q15327 (ANKR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ankyrin repeat domain-containing protein 1

Alternative name(s):
Cardiac ankyrin repeat protein
Cytokine-inducible gene C-193 protein
Cytokine-inducible nuclear protein

Gene names

Name:	ANKRD1
Synonyms:	C193, CARP, HA1A2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	319 AA.
Sequence status	Complete.
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. Ref.5
Subcellular location	Nucleus Ref.1 Ref.2.
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/interleukin-1 alpha and parthenolide. Ref.1 Ref.2
Involvement in disease	Total anomalous pulmonary venous return (TAPVR) [MIM:106700]: 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. Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Contains 5 ANK repeats.

Ontologies

Keywords
Cellular component	Nucleus
Disease	Disease mutation
Domain	ANK repeat Coiled coil Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiac muscle tissue morphogenesis Inferred from mutant phenotype PubMed 19525294PubMed 19608030. Source: BHF-UCL cellular lipid metabolic process Traceable author statement. Source: Reactome cellular response to drug Inferred from electronic annotation. Source: Compara cellular response to hypoxia Inferred from electronic annotation. Source: Compara cellular response to interleukin-1 Inferred from direct assay Ref.1. Source: BHF-UCL cellular response to lipopolysaccharide Inferred from direct assay Ref.1. Source: BHF-UCL cellular response to mechanical stimulus Inferred from direct assay PubMed 17239933. Source: UniProtKB cellular response to organic cyclic compound Inferred from electronic annotation. Source: Compara cellular response to transforming growth factor beta stimulus Inferred from direct assay PubMed 11139470. Source: BHF-UCL cellular response to tumor necrosis factor Inferred from direct assay Ref.1. Source: BHF-UCL negative regulation of DNA biosynthetic process Inferred from mutant phenotype PubMed 11139470. Source: BHF-UCL negative regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara positive regulation of DNA damage response, signal transduction by p53 class mediator Inferred from direct assay PubMed 20599664. Source: BHF-UCL positive regulation of apoptotic process Inferred from mutant phenotype Ref.2. Source: BHF-UCL positive regulation of neuron projection development Inferred from electronic annotation. Source: Compara positive regulation of protein secretion Inferred from mutant phenotype PubMed 17239933. Source: UniProtKB response to muscle stretch Inferred from mutant phenotype PubMed 19608030. Source: BHF-UCL sarcomere organization Non-traceable author statement PubMed 11309420. Source: BHF-UCL small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	I band Inferred from sequence or structural similarity PubMed 19525294. Source: BHF-UCL cytosol Inferred from direct assay PubMed 19608030. Source: BHF-UCL nucleoplasm Traceable author statement. Source: Reactome transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	DNA binding Inferred from direct assay Ref.1. Source: BHF-UCL RNA polymerase II transcription coactivator activity Inferred from direct assay PubMed 20599664. Source: BHF-UCL transcription corepressor activity Traceable author statement PubMed 20599664. Source: BHF-UCL
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 [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: VARIANT TAPVR MET-116.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. NM_014391.2.
UniGene	Hs.448589.
3D structure databases
ProteinModelPortal	Q15327.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15327. 13 interactions.
STRING	9606.ENSP00000360762.
PTM databases
PhosphoSite	Q15327.
Polymorphism databases
DMDM	109940213.
Proteomic databases
PaxDb	Q15327.
PRIDE	Q15327.
Protocols and materials databases
DNASU	27063.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000371697; ENSP00000360762; ENSG00000148677.
GeneID	27063.
KEGG	hsa:27063.
UCSC	uc001khe.1. human.
Organism-specific databases
CTD	27063.
GeneCards	GC10M092661.
HGNC	HGNC:15819. ANKRD1.
HPA	HPA038736.
MIM	106700. phenotype. 609599. gene.
neXtProt	NX_Q15327.
PharmGKB	PA134882768.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0666.
HOGENOM	HOG000236321.
HOVERGEN	HBG071561.
InParanoid	Q15327.
OMA	EGDTPMH.
OrthoDB	EOG4VDPZW.
PhylomeDB	Q15327.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
Bgee	Q15327.
CleanEx	HS_ANKRD1.
Genevestigator	Q15327.
GermOnline	ENSG00000148677. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.20. 2 hits.
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Pfam	PF12796. Ank_2. 2 hits. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 4 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 4 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ANKRD1. human.
GenomeRNAi	27063.
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:	May 1, 2013
This is version 94 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.