Skip Header

 
Contribute Send feedback

Reviewed, UniProtKB/Swiss-Prot P49639 (HXA1_HUMAN)

Last modified November 25, 2008. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Homeobox protein Hox-A1
Alternative name(s):
    Hox-1F
Gene names
Name: HOXA1
Synonyms: HOX1F
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length335 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

General annotation (Comments)

Function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.

Subcellular location

Nucleus.

Involvement in disease

Defects in HOXA1 are the cause of Athabaskan brainstem dysgenesis syndrome (ABSD) [MIM:601536]; also known as Narvajo brainstem syndrome. This syndrome is characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.

Defects in HOXA1 are the cause of Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]. Affected individuals show horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. In contrast to individuals with ABSD, central hypoventilation is not observed in individuals with BSAS.

Sequence similarities

Belongs to the Antp homeobox family. Labial subfamily.

Contains 1 homeobox DNA-binding domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: P49639-1)

Also known as: 36 kDa;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 1 (identifier: P49639-2)

Also known as: 14 kDa;

The sequence of this isoform differs from the canonical sequence as follows:
     119-137: VSGGYPQCAPAVYSGNLSS → PPRSLSLPRIGDIFSSADF
     138-335: Missing.
Notes: Lacks the homeobox domain.
Isoform 2 (identifier: P49639-3)

Also known as: 24 kDa;

The sequence of this isoform differs from the canonical sequence as follows:
     219-227: KVGEYGYLG → QSCWLVDAP
     228-335: Missing.
Notes: Lacks the homeobox domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 335335Homeobox protein Hox-A1
PRO_0000200030

Regions

DNA binding229 – 28860Homeobox
Motif204 – 2096Antp-type hexapeptide
Compositional bias65 – 7410Poly-His
Compositional bias142 – 1465Poly-His
Compositional bias314 – 3174Poly-Ser

Natural variations

Alternative sequence119 – 13719VSGGY…GNLSS → PPRSLSLPRIGDIFSSADF in isoform 1.
VSP_002376
Alternative sequence138 – 335198Missing in isoform 1.
VSP_002377
Alternative sequence219 – 2279KVGEYGYLG → QSCWLVDAP in isoform 2.
VSP_002378
Alternative sequence228 – 335108Missing in isoform 2.
VSP_002379
Natural variant731H → R Frequent polymorphism in individuals of European or African origin. dbSNP rs10951154.
VAR_010305
Natural variant1891E → A: dbSNP rs17500494.
VAR_030576

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 (36 kDa) [UniParc].

Last modified July 15, 1999. Version 2.
Checksum: 3C3A2D0A59A4181C

FASTA33536,641
        10         20         30         40         50         60 
MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ 

        70         80         90        100        110        120 
IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS 

       130        140        150        160        170        180 
GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL 

       190        200        210        220        230        240 
SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ 

       250        260        270        280        290        300 
LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP 

       310        320        330 
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH 

« Hide

Isoform 1 (14 kDa) [UniParc].

Checksum: 9F0067A9E6AD51DE
Show »

13714,816
Isoform 2 (24 kDa) [UniParc].

Checksum: 81A54EF51FB0F033
Show »

22724,489

References

« Hide 'large scale' references
[1]"Structure and function of the HOX A1 human homeobox gene cDNA."
Hong Y.S., Kim S.Y., Bhattacharya A., Pratt D.R., Hong W.K., Tainsky M.A.
Gene 159:209-214(1995) [PubMed: 7622051] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Tissue: Ovary.
[2]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed: 12853948] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] (ISOFORM 3).
Tissue: Skin.
[4]"Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast cancer cells."
Chariot A., Moreau L., Senterre G., Sobel M., Castronovo V.
Biochem. Biophys. Res. Commun. 215:713-720(1995) [PubMed: 7488013] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-335 (ISOFORMS 1; 2 AND 3).
[5]"Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders."
Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R., Rodier P.M.
Teratology 62:393-405(2000) [PubMed: 11091361] [Abstract]
Cited for: VARIANT ARG-73.
[6]"Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development."
Tischfield M.A., Bosley T.M., Salih M.A.M., Alorainy I.A., Sener E.C., Nester M.J., Oystreck D.T., Chan W.-M., Andrews C., Erickson R.P., Engle E.C.
Nat. Genet. 37:1035-1037(2005) [PubMed: 16155570] [Abstract]
Cited for: INVOLVEMENT IN ABSD AND BSAS.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

U10421 mRNA. Translation: AAA86954.1.
AC004079 Genomic DNA. Translation: AAS00374.1.
BC032547 mRNA. Translation: AAH32547.1.
U37431 mRNA. Translation: AAC50248.1.
U37431 mRNA. Translation: AAC50249.1.
U37431 mRNA. Translation: AAC50250.1.
S79869 mRNA. Translation: AAB35424.2.
S79871 mRNA. Translation: AAB35425.1.
S79910 mRNA. Translation: AAB35423.2.
PIRG01448.
RefSeqNP_005513.1.
NP_705873.2.
UniGeneHs.67397

3D structure databases

HSSPHSSP built from PDB template 1B72 based on UniProtKB P14653.
ModBaseSearch...

Protein-protein interaction databases

IntActP49639.

Genome annotation databases

EnsemblENSG00000105991. Homo sapiens. [Contig view]
GeneID3198.
KEGGhsa:3198.

Organism-specific databases

HGNCHGNC:5099. HOXA1.
HPAHPA004933.
MIM142955. gene.
601536. phenotype.
Orphanet69739. Athabaskan brainstem dysgenesis syndrome.
69737. Bosley-Salih-Alorainy syndrome.
PharmGKBPA29376.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMP49639.
HOVERGENP49639.

Gene expression databases

ArrayExpressP49639.
CleanExHS_HOXA1.
GermOnlineENSG00000105991. Homo sapiens.

Family and domain databases

InterProIPR001827. Antennapedia.
IPR001356. Homeobox.
IPR012287. Homeodomain-rel.
IPR000047. HTH_lambrepressr.
[Graphical view]
Gene3DG3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
ProDomPD000010. Homeobox. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
PROSITEPS00032. ANTENNAPEDIA. False negative.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio12718.
SOURCESearch...

Entry information

Entry nameHXA1_HUMAN
AccessionPrimary (citable) accession number: P49639
Secondary accession number(s): O43363
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 15, 1999
Last modified: November 25, 2008
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Vertebrate homeotic Hox proteins

Nomenclature of vertebrate homeotic Hox proteins and list of entries

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents