Immunogen sequence: PLHPSYQQP LMPPVQSHVT QSPFMATMAQ LQSPHALYSH KPEVAQYTHT GLLPQTMLIT DTTNLSALAS LTPTKQVFTS DTEASSESGL HTPASQATTL HVPSQDPAGI QHLQPAHRLS ASPTVSSSSL VLYQSSDSSN GQSHLLPSNH SVIETFISTQ MASSSQ (467-631 aa encoded by BC104910)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: albumin proximal factor; hepatic nuclear factor 1; hepatic nuclear factor-1-alpha; hepatocyte nuclear factor 1; Hepatocyte nuclear factor 1-alpha; hnf-1 alpha; HNF-1-alpha; HNF-1A; interferon production regulator factor; LF-B1 hepatic nuclear factor (HNF1): albumin proximal factor also TCF1; LF-B1, hepatic nuclear factor (HNF1): albumin proximal factor, also TCF1; LFB1; Liver-specific transcription factor LF-B1; TCF-1; Transcription factor 1; Transcription factor 1 hepatic; Transcription factor 1, hepatic
Gene Aliases: AI323641; Hnf-1; HNF-1A; HNF1; HNF1-alpha; HNF1[a]; HNF1A; Hnf1alpha; IDDM20; LF-B1; LFB1; MODY3; TCF-1; TCF1
Molecular Function: DNA-binding transcription factor