ANKHD1

ANKHD1
Identifiers
Aliases	ANKHD1 , MASK, VBARP, MASK1, PP2500, ankyrin repeat and KH domain containing 1
External IDs	OMIM: 610500 MGI: 1921733 HomoloGene: 87006 GeneCards: ANKHD1
Gene location (Human)
Chr.	Chromosome 5 (human)
End	140,539,856 bp
Gene ontology
Molecular function	• GO:0001948 protein binding ; • nucleic acid binding ; • RNA binding ;
Cellular component	• cytoplasm ;
Biological process	• innate immune system ;
	Sources:Amigo / QuickGO
Orthologs
	54882
	108857
	ENSG00000131503
	ENSMUSG00000024483
	Q8IWZ3
	n/a
	NM_024668 ; NM_001197030 ; NM_017747 ; NM_017978
	NM_175375
	NP_065741 ; NP_001183959 ; NP_060217 ; NP_060448 ; NP_078944 Contents Function ; References ; External links ; Further reading ;
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 02, 2021

Ankyrin repeat and KH domain-containing protein 1 is a protein that in humans is encoded by the ANKHD1 gene.^[4]^[5]^[6]^[7]

Function

This gene encodes a protein with multiple ankyrin repeat domains and a single KH domain. Co-transcription of this gene and the neighboring downstream gene (EIF4EBP3) generates a transcript (MASK-BP3) which encodes a fusion protein composed of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments.^[7]

Related Research Articles

Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained.

Ankyrins are a family of proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane cytoskeleton. Ankyrins have binding sites for the beta subunit of spectrin and at least 12 families of integral membrane proteins. This linkage is required to maintain the integrity of the plasma membranes and to anchor specific ion channels, ion exchangers and ion transporters in the plasma membrane. The name is derived from the Greek word for "fused".

SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined.

CCAAT/enhancer-binding protein gamma is a protein that in humans is encoded by the CEBPG gene.

DNA-binding protein RFXANK is a protein that in humans is encoded by the RFXANK gene.

Ankyrin repeat and SAM domain-containing protein 1A (ANKS1A), also known as ODIN, is a protein that in humans is encoded by the ANKS1A gene on chromosome 6.

KN motif and ankyrin repeat domain-containing protein 2 is a protein that in humans is encoded by the KANK2 gene.

Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene.

Ankyrin repeat and FYVE domain-containing protein 1 is a protein that in humans is encoded by the ANKFY1 gene.

Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 is a protein that in humans is encoded by the ARAP1 gene.

KN motif and ankyrin repeat domain-containing protein 1 is a protein that in humans is encoded by the KANK1 gene.

Ankyrin repeat domain-containing protein 13C is a protein that in humans is encoded by the ANKRD13C gene.

Ankyrin 1, erythrocytic, also known as ANK1, is a protein that in humans is encoded by the ANK1 gene.

Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 is a protein that in humans is encoded by the ARAP2 gene.

Ankyrin repeat domain-containing protein 23 is a protein that in humans is encoded by the ANKRD23 gene.

Ankyrin repeat domain-containing protein 26 is a protein that in humans is encoded by the ANKRD26 gene. This protein has a function that is not currently understood.

Ankyrin repeat and SOCS box protein 13 is a protein that in humans is encoded by the ASB13 gene.

Ankyrin repeat and BTB/POZ domain-containing protein 1 is a protein that in humans is encoded by the ABTB1 gene.

Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 is a protein that in humans is encoded by the ASZ1 gene.

Ankyrin-3 (ANK-3), also known as ankyrin-G, is a protein from ankyrin family that in humans is encoded by the ANK3 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000131503 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jun 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (3): 197–205. doi: 10.1093/dnares/6.3.197 . PMID 10470851.
↑ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072 . PMID 11230166.
↑ Miles MC, Janket ML, Wheeler ED, Chattopadhyay A, Majumder B, Dericco J, Schafer EA, Ayyavoo V (Aug 2005). "Molecular and functional characterization of a novel splice variant of ANKHD1 that lacks the KH domain and its role in cell survival and apoptosis". The FEBS Journal. 272 (16): 4091–4102. doi: 10.1111/j.1742-4658.2005.04821.x . PMID 16098192. S2CID 85963472.
1 2 "Entrez Gene: ANKHD1 ankyrin repeat and KH domain containing 1".

External links

Human ANKHD1 genome location and ANKHD1 gene details page in the UCSC Genome Browser .

Morris JA, Kandpal G, Ma L, Austin CP (Jul 2003). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation". Human Molecular Genetics. 12 (13): 1591–1608. doi: 10.1093/hmg/ddg162 . PMID 12812986.
Poulin F, Brueschke A, Sonenberg N (Dec 2003). "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK". The Journal of Biological Chemistry. 278 (52): 52290–52297. doi: 10.1074/jbc.M310761200 . PMID 14557257.
Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C, Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G, Neubauer G, Rick J, Kuster B, Superti-Furga G (Feb 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
Traina F, Favaro PM, Medina Sde S, Duarte Ada S, Winnischofer SM, Costa FF, Saad ST (Sep 2006). "ANKHD1, ankyrin repeat and KH domain containing 1, is overexpressed in acute leukemias and is associated with SHP2 in K562 cells". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762 (9): 828–834. doi: 10.1016/j.bbadis.2006.07.010 . PMID 16956752.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000131503 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10470851-4] Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jun 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (3): 197–205. doi: 10.1093/dnares/6.3.197 . PMID 10470851.

[pmid11230166-5] Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072 . PMID 11230166.

[pmid16098192-6] Miles MC, Janket ML, Wheeler ED, Chattopadhyay A, Majumder B, Dericco J, Schafer EA, Ayyavoo V (Aug 2005). "Molecular and functional characterization of a novel splice variant of ANKHD1 that lacks the KH domain and its role in cell survival and apoptosis". The FEBS Journal. 272 (16): 4091–4102. doi: 10.1111/j.1742-4658.2005.04821.x . PMID 16098192. S2CID 85963472.

[entrez-7] 1 2 "Entrez Gene: ANKHD1 ankyrin repeat and KH domain containing 1".

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ANKHD1

Contents

Function

Related Research Articles

References

External links

Further reading