AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AGAP9provided by HGNC
Official Full Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 9provided by HGNC
Primary source: HGNC:HGNC:23463
See related: Ensembl:ENSG00000204172 AllianceGenome:HGNC:23463
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AGAP-9; CTGLF6; bA301J7.2
Summary: Predicted to enable GTPase activator activity and GTPase activity. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 15.8), skin (RPKM 15.2) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 10q11.22

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (47501854..47523638, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (48393155..48414940, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (48215724..48237508)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH40305 (e-PCR)
- UniSTS:84492

GDB:434012 (e-PCR)
- UniSTS:157204

WI-15534 (e-PCR)
- UniSTS:22561

D7S2067E (e-PCR)
- UniSTS:151120

RH36848 (e-PCR)
- UniSTS:93023

RH44360 (e-PCR)
- UniSTS:90466

GDB:335751 (e-PCR)
- UniSTS:156601

Readthrough BMS1P2-AGAP9

Readthrough gene: BMS1P2-AGAP9, Included gene: BMS1P2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9

Names: centaurin-gamma-like family member 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001190810.1 → NP_001177739.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9

Status: VALIDATED

Source sequence(s)

BC171845, BC171847

Consensus CDS

CCDS73125.1

UniProtKB/TrEMBL

Q6ZMK7

Related

ENSP00000392206.2, ENST00000452145.6

Conserved Domains (6) summary

cd01250
Location:280 → 444

PH_AGAP; Arf-GAP with GTPase, ANK repeat and PH domain-containing protein Pleckstrin homology (PH) domain

pfam00023
Location:623 → 643

Ank; Ankyrin repeat

pfam00169
Location:283 → 442

PH; PH domain

pfam01412
Location:466 → 580

ArfGap; Putative GTPase activating protein for Arf

pfam12796
Location:596 → 643

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:591 → 621

ANK; ANK repeat [structural motif]