AGAP1
Identifiers
AliasesAGAP1, AGAP-1, CENTG2, GGAP1, cnt-g2, ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
External IDsOMIM: 608651 MGI: 2653690 HomoloGene: 56689 GeneCards: AGAP1
Orthologs
SpeciesHumanMouse
Entrez

116987

347722

Ensembl

ENSG00000157985

ENSMUSG00000055013

UniProt

Q9UPQ3

Q8BXK8

RefSeq (mRNA)

NM_001037131
NM_001244888
NM_014914

NM_001037136
NM_178119

RefSeq (protein)

NP_001032208
NP_001231817
NP_055729

NP_001032213
NP_835220

Location (UCSC)Chr 2: 235.49 – 236.13 MbChr 1: 89.38 – 89.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 is an enzyme that in humans is encoded by the AGAP1 gene.[5]

Function

CENTG2 belongs to an ADP-ribosylation factor GTPase-activating (ARF-GAP) protein family involved in membrane traffic and actin cytoskeleton dynamics (Nie et al., 2002).[supplied by OMIM][5]

HACNS1

HACNS1 is located in an intron of the gene CENTG2 (also known as Human Accelerated Region 2). HACNS1 is hypothesized to be a gene enhancer "that may have contributed to the evolution of the uniquely opposable human thumb, and possibly also modifications in the ankle or foot that allow humans to walk on two legs". Evidence to date shows that of the 110,000 gene enhancer sequences identified in the human genome, HACNS1 has undergone the most change during the evolution of humans following the split with the ancestors of chimpanzees.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000157985 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000055013 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: CENTG2 centaurin, gamma 2".
  6. HACNS1: Gene enhancer in evolution of human opposable thumb

Further reading


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