1. Gene
  2. AFAP1 - actin filament associated protein 1 Gene

AFAP1 - actin filament associated protein 1 Gene

Homo sapiens

Also known as AFAP; AFAP110; AFAP-110

Gene ID: 60312 | Gene type: protein coding

About AFAP1

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:7,758,713-7,939,861 (from NCBI)

This gene has 10 transcripts (splice variants), 198 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 8.4), placenta (RPKM 6.8) and 24 other tissues.

Summary

The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

AFAP1 Products(4)

mRNA Protein Name
NM_001134647.2 NP_001128119.1 actin filament-associated protein 1 isoform A
NM_001371090.1 NP_001358019.1 actin filament-associated protein 1 isoform B
NM_001371091.1 NP_001358020.1 actin filament-associated protein 1 isoform B
NM_198595.3 NP_940997.1 actin filament-associated protein 1 isoform B

AFAP1 Protein Structure

PH

PH: PH domain (159 - 247)

PH

PH: PH domain (351 - 434)

  • 0
  • 200
  • 400
  • 600
  • 730 a.a.
Protein Preferred Names Protein Names

actin filament-associated protein 1

110 kDa actin filament-associated protein

Related Diseases

Diseases Alias
Familial Adenomatous Polyposis 2

Mutyh-Related Attenuated Familial Adenomatous Polyposis

FAP2

Colorectal Adenomatous Polyposis, Autosomal Recessive

Adenomas, Multiple Colorectal

Mutyh-Associated Polyposis

Mutyh-Related Attenuated Familial Polyposis Coli

Mutyh-Related Attenuated Fap

Adenomas, Multiple Colorectal, Autosomal Recessive

Mutyh-Related Afap

Adenomas Multiple Colorectal Autosomal Recessive

Colorectal Adenomatous Polyposis Autosomal Recessive

Adenomatous Polyposis, Familial, Type 2

Desmoid Tumor

Aggressive Fibromatosis

Desmoid Type Fibromatosis

Familial Infiltrative Fibromatosis

Desmoid Disorder, Hereditary

Fif

Fibromatosis, Familial Infiltrative

Deep Fibromatosis

Desmoid Fibromatosis

Hereditary Desmoid Disease

Musculoaponeurotic Fibromatosis

Desmoid-Type Fibromatosis

Fibromatosis, Aggressive

Desmoid Disease, Hereditary

Musculo-Aponeurotic Fibromatosis

Juvenile Polyposis Syndrome

JPS

Juvenile Intestinal Polyposis

Jip

Pji

Juvenile Gastrointestinal Polyposis

Juvenile Polyposis

Polyposis, Juvenile Intestinal

Polyposis, Familial, Of Entire Gastrointestinal Tract

Polyposis Familial Of Entire Gastrointestinal Tract

Polyposis Juvenile Intestinal

Polyposis Syndrome, Juvenile

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Colorectal Adenoma

Colorectal Adenomas

Adenoma Of Large Intestine

Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Muir-Torre Syndrome

MRTES

Keratoacanthoma

Muir-Torré Syndrome

Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas

Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas

Multiple Keratoacanthoma, Muir-Torre Type

Mts

Torre-Muir Syndrome

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris AFAP1 VGNC VGNC:37683
Mus musculus AFAP1 MGD MGI:1917542
Rattus norvegicus AFAP1 RGD RGD:619959
Bos taurus AFAP1 VGNC VGNC:25706
Macaca mulatta AFAP1 VGNC VGNC:100199
Felis catus AFAP1 VGNC VGNC:59665