NELFA

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]

Description

Negative elongation factor complex member A

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear bodies

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

4 (1982717 - 2041903)

Ensembl ID

ENSG00000185049  (ver. 103.38)

Orthologs

Mouse Nelfa: ENSMUSG00000029111

UniProt

Q9H3P2

neXtProt

NX_Q9H3P2

Human splice variants
Mouse splice variants

Protein structure