Reviewed, UniProtKB/Swiss-Prot P55317 (FOXA1_HUMAN)

Names and origin

Protein names

Recommended name:
    Hepatocyte nuclear factor 3-alpha
      Short name=HNF-3-alpha
      Short name=HNF-3A
Alternative name(s):
    Forkhead box protein A1

Gene names

Name:	FOXA1
Synonyms:	HNF3A, TCF3A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	473 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes.
Subcellular location	Nucleus.
Sequence similarities	Contains 1 fork-head DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Activator
PTM	Phosphoprotein
Gene Ontology (GO)
Cellular component	nucleus Inferred from electronic annotation. Source: InterPro
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 473	473	Hepatocyte nuclear factor 3-alpha		PRO_0000091792
Regions
	DNA binding	170 – 261	92	Fork-head
Amino acid modifications
	Modified residue	344	1	Phosphothreonine By similarity
Natural variations
	Natural variant	72	1	A → G		VAR_015183
	Natural variant	83	1	A → T		VAR_013457
	Natural variant	125	1	Missing		VAR_015184
	Natural variant	186	1	R → Q		VAR_015185
	Natural variant	449	1	S → N		VAR_013458

Sequences

	Sequence		Length	Mass (Da)
	P55317-1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 38F99B59002C4A5F	FASTA	473	49,321
	10 20 30 40 50 60 MLGTVKMEGH ETSDWNSYYA DTQEAYSSVP VSNMNSGLGS MNSMNTYMTM NTMTTSGNMT 70 80 90 100 110 120 PASFNMSYAN PALGAGLSPG AVAGMPGGSA GAMNSMTAAG VTAMGTALSP SGMGAMGAQQ 130 140 150 160 170 180 AASMMNGLGP YAAAMNPCMS PMAYAPSNLG RSRAGGGGDA KTFKRSYPHA KPPYSYISLI 190 200 210 220 230 240 TMAIQRAPSK MLTLSEIYQW IMDLFPYYRQ NQQRWQNSIR HSLSFNDCFV KVARSPDKPG 250 260 270 280 290 300 KGSYWTLHPD SGNMFENGCY LRRQKRFKCE KQPGAGGGGG SGSGGSGAKG GPESRKDPSG 310 320 330 340 350 360 ASNPSADSPL HRGVHGKTGQ LEGAPAPGPA ASPQTLDHSG ATATGGASEL KTPASSTAPP 370 380 390 400 410 420 ISSGPGALAS VPASHPAHGL APHESQLHLK GDPHYSFNHP FSINNLMSSS EQQHKLDFKA 430 440 450 460 470 YEQALQYSPY GSTLPASLPL GSASVTTRSP IEPSALEPAY YQGVYSRPVL NTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of the forkhead transcription factor HNF-3 alpha from a human pulmonary adenocarcinoma cell line." Bingle C.D., Gowan S. Biochim. Biophys. Acta 1307:17-20(1996) [PubMed: 8652662] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Lung.
[2]	"The human HNF-3 genes: cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis." Navas M.A., Vaisse C., Boger S., Heimesaat M., Kollee L.A., Stoffel M. Hum. Hered. 50:370-381(2000) [PubMed: 10899756] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-83 AND ASN-449.
[3]	"Genetic variation in the HNF-3alpha gene." Yu L., Takeda J. Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-72; MET-125 DEL AND GLN-186.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-72; MET-125 DEL AND GLN-186. Tissue: Testis.
+	Additional computationally mapped references.

Web resources

Wikipedia

Hepatocyte nuclear factors entry

Cross-references

Sequence databases
EMBLGenBankDDBJ	U39840 mRNA. Translation: AAB06493.1. AF176112, AF176111 Genomic DNA. Translation: AAD51979.1. AF303743, AF303742 Genomic DNA. Translation: AAG40847.1. BC033890 mRNA. Translation: AAH33890.1.
PIR	S70357.
RefSeq	NP_004487.2.
UniGene	Hs.163484
3D structure databases
HSSP	HSSP built from PDB template 1D5V based on UniProtKB Q99958.
SMR	P55317. Positions 171-261.
ModBase	Search...
PTM databases
PhosphoSite	P55317.
Genome annotation databases
Ensembl	ENSG00000129514. Homo sapiens. [Contig view]
GeneID	3169.
KEGG	hsa:3169.
Organism-specific databases
H-InvDB	HIX0011609.
HGNC	HGNC:5021. FOXA1.
HPA	CAB011595.
MIM	602294. gene.
PharmGKB	PA201090.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P55317.
HOVERGEN	P55317.
Gene expression databases
ArrayExpress	P55317.
CleanEx	HS_FOXA1.
Family and domain databases
InterPro	IPR013638. Fork-head_N. IPR001766. TF_Fork_head. IPR011991. Wing_hlx_DNA_bd. [Graphical view]
Gene3D	G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit.
PANTHER	PTHR11829. Fork_box_protein. 1 hit.
Pfam	PF00250. Fork_head. 1 hit. PF08430. Fork_head_N. 1 hit. [Graphical view]
PRINTS	PR00053. FORKHEAD.
ProDom	PD000425. TF_Fork_head. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00339. FH. 1 hit. [Graphical view]
PROSITE	PS00657. FORK_HEAD_1. 1 hit. PS00658. FORK_HEAD_2. 1 hit. PS50039. FORK_HEAD_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	12564.
SOURCE	Search...

Entry information

Entry name

FOXA1_HUMAN

Accession

Primary (citable) accession number: P55317
Secondary accession number(s): Q9H2A0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	November 25, 2008
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)