1. Gene
  2. SAFB - scaffold attachment factor B Gene

SAFB - scaffold attachment factor B Gene

Homo sapiens

Also known as HAP; HET; SAF-B; SAFB1; SAB-B1; SAF-B1

Gene ID: 6294 | Gene type: protein coding

About SAFB

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:5,623,083-5,668,478 (from NCBI)

This gene has 14 transcripts (splice variants), 235 orthologues and 2 paralogues. Ubiquitous expression in spleen (RPKM 29.9), testis (RPKM 26.5) and 25 other tissues.

Summary

This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an Estrogen Receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]

SAFB Products(6)

mRNA Protein Name
NM_001201338.2 NP_001188267.1 scaffold attachment factor B1 isoform 1
NM_001201339.2 NP_001188268.1 scaffold attachment factor B1 isoform 2
NM_001201340.2 NP_001188269.1 scaffold attachment factor B1 isoform 4
NM_001320571.2 NP_001307500.1 scaffold attachment factor B1 isoform 5
NM_001320572.2 NP_001307501.1 scaffold attachment factor B1 isoform 6
NM_002967.4 NP_002958.2 scaffold attachment factor B1 isoform 3

SAFB Protein Structure

SAP

SAP: SAP domain (31 - 65)

(409 - 477)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 915 a.a.
Protein Preferred Names Protein Names

scaffold attachment factor B1

HSP27 ERE-TATA-binding protein

Related Diseases

Diseases Alias
Denys-Drash Syndrome

Drash Syndrome

DDS

Nephropathy, Wilms Tumor, And Genital Anomalies

Wilms Tumor And Pseudohermaphroditism

Wilms Tumor And Pseudo- Or True Hermaphroditism

Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

Wilms Tumor-Dsd Syndrome

Wilms Tumor-Disorder Of Sex Development 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

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
Macaca mulatta SAFB VGNC VGNC:76964
Felis catus SAFB VGNC VGNC:64854
Canis familiaris SAFB VGNC VGNC:45844
Rattus norvegicus SAFB RGD RGD:620613
Mus musculus SAFB MGD MGI:2146974