Q2M1V0 (ISX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Intestine-specific homeobox

Alternative name(s):
RAX-like homeobox

Gene names

Name:	ISX
Synonyms:	RAXLX

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	245 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCMO1 expression in the intestine By similarity.
Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 245	245	Intestine-specific homeobox		PRO_0000288602
Regions
	DNA binding	82 – 141	60	Homeobox
Natural variations
	Natural variant	28	1	S → G. Ref.3 Corresponds to variant rs361863 [ dbSNP | Ensembl ].		VAR_032448
	Natural variant	57	1	P → S. Ref.3 Corresponds to variant rs362090 [ dbSNP | Ensembl ].		VAR_032449
	Natural variant	83	1	R → Q. Corresponds to variant rs8140287 [ dbSNP | Ensembl ].		VAR_032450
	Natural variant	158	1	A → V. Corresponds to variant rs7291048 [ dbSNP | Ensembl ].		VAR_032451

Sequences

	Sequence		Length	Mass (Da)
	Q2M1V0 [UniParc]. Last modified May 29, 2007. Version 2. Checksum: 361FB0447DC6C02D	FASTA	245	27,011
	10 20 30 40 50 60 MCAEVGPALC RGMERNSLGC CEAPKKLSLS FSIEAILKRP ARRSDMDRPE GPGEEGPGEA 70 80 90 100 110 120 AASGSGLEKP PKDQPQEGRK SKRRVRTTFT TEQLHELEKI FHFTHYPDVH IRSQLAARIN 130 140 150 160 170 180 LPEARVQIWF QNQRAKWRKQ EKIGNLGAPQ QLSEASVALP TNLDVAGPTW TSTALRRLAP 190 200 210 220 230 240 PTSCCPSAQD QLASAWFPAW ITLLPAHPWE TQPVPGLPIH QTCIPVLCIL PPPHPKWGSI CATST

References

[1]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon carcinoma.
[2]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-28 AND SER-57.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	CR749372 mRNA. Translation: CAH18225.1. Z83853, AL024494 Genomic DNA. Translation: CAI18752.1. AL024494, Z83853 Genomic DNA. Translation: CAI19818.1. BC112212 mRNA. Translation: AAI12213.1. BC113633 mRNA. Translation: AAI13634.1.
IPI	IPI00178348.
RefSeq	NP_001008494.1. NM_001008494.1.
UniGene	Hs.567637.
3D structure databases
ProteinModelPortal	Q2M1V0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q2M1V0. 1 interaction.
STRING	9606.ENSP00000311492.
PTM databases
PhosphoSite	Q2M1V0.
Polymorphism databases
DMDM	150387849.
Proteomic databases
PRIDE	Q2M1V0.
Protocols and materials databases
DNASU	91464.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308700; ENSP00000311492; ENSG00000175329. ENST00000404699; ENSP00000386037; ENSG00000175329.
GeneID	91464.
KEGG	hsa:91464.
UCSC	uc003anj.3. human.
Organism-specific databases
CTD	91464.
GeneCards	GC22P035462.
HGNC	HGNC:28084. ISX.
MIM	612019. gene.
neXtProt	NX_Q2M1V0.
PharmGKB	PA147357909.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG252360.
HOGENOM	HOG000052524.
HOVERGEN	HBG096596.
InParanoid	Q2M1V0.
OMA	CCEAPKK.
OrthoDB	EOG4PZJ7F.
PhylomeDB	Q2M1V0.
Gene expression databases
Bgee	Q2M1V0.
CleanEx	HS_ISX.
Genevestigator	Q2M1V0.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	91464.
NextBio	77268.
SOURCE	Search...

Entry information

Entry name

ISX_HUMAN

Accession

Primary (citable) accession number: Q2M1V0
Secondary accession number(s): Q68DJ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	May 29, 2007
Last modified:	May 1, 2013
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.