O43248 (HXC11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Hox-C11

Alternative name(s):
Homeobox protein Hox-3H

Gene names

Name:	HOXC11
Synonyms:	HOX3H

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	304 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Binds to a promoter element of the lactase-phlorizin hydrolase gene.
Subcellular location	Nucleus.
Sequence similarities	Belongs to the Abd-B homeobox family. 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	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara embryonic digit morphogenesis Inferred from electronic annotation. Source: Compara embryonic skeletal joint morphogenesis Inferred from electronic annotation. Source: Compara endoderm development Traceable author statement Ref.1. Source: ProtInc metanephros development Inferred from electronic annotation. Source: Compara organ induction Inferred from electronic annotation. Source: Compara proximal/distal pattern formation Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	mitochondrion Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
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 – 304	304	Homeobox protein Hox-C11		PRO_0000200192
Regions
	DNA binding	232 – 291	60	Homeobox
Natural variations
	Natural variant	130	1	P → S. Ref.5		VAR_031850
	Natural variant	222	1	A → V. Corresponds to variant rs12427129 [ dbSNP | Ensembl ].		VAR_034002
Experimental info
	Sequence conflict	48	1	S → F in AAH01543. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	O43248 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: EB357DEBB3DE165F	FASTA	304	33,748
	10 20 30 40 50 60 MFNSVNLGNF CSPSRKERGA DFGERGSCAS NLYLPSCTYY MPEFSTVSSF LPQAPSRQIS 70 80 90 100 110 120 YPYSAQVPPV REVSYGLEPS GKWHHRNSYS SCYAAADELM HRECLPPSTV TEILMKNEGS 130 140 150 160 170 180 YGGHHHPSAP HATPAGFYSS VNKNSVLPQA FDRFFDNAYC GGGDPPAEPP CSGKGEAKGE 190 200 210 220 230 240 PEAPPASGLA SRAEAGAEAE AEEENTNPSS SGSAHSVAKE PAKGAAPNAP RTRKKRCPYS 250 260 270 280 290 300 KFQIRELERE FFFNVYINKE KRLQLSRMLN LTDRQVKIWF QNRRMKEKKL SRDRLQYFSG NPLL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The HOXC11 homeodomain protein interacts with the lactase-phlorizin hydrolase promoter and stimulates HNF1alpha-dependent transcription." Mitchelmore C.E., Troelsen J.T., Sjoestroem H., Noren O. J. Biol. Chem. 273:13297-13306(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Cervix.
[5]	"Complete mutation analysis panel of the 39 human HOX genes." Kosaki K., Kosaki R., Suzuki T., Yoshihashi H., Takahashi T., Sasaki K., Tomita M., McGinnis W., Matsuo N. Teratology 65:50-62(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-130.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ000041 mRNA. Translation: CAA03876.1. AK291946 mRNA. Translation: BAF84635.1. CH471054 Genomic DNA. Translation: EAW96736.1. BC001543 mRNA. Translation: AAH01543.1.
IPI	IPI00011610.
PIR	A60941.
RefSeq	NP_055027.1. NM_014212.3.
UniGene	Hs.127562.
3D structure databases
ProteinModelPortal	O43248.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43248. 2 interactions.
STRING	9606.ENSP00000243082.
PTM databases
PhosphoSite	O43248.
Proteomic databases
PaxDb	O43248.
PRIDE	O43248.
Protocols and materials databases
DNASU	3227.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000546378; ENSP00000446680; ENSG00000123388.
GeneID	3227.
KEGG	hsa:3227.
UCSC	uc001sem.3. human.
Organism-specific databases
CTD	3227.
GeneCards	GC12P054366.
HGNC	HGNC:5123. HOXC11.
HPA	HPA038291.
MIM	605559. gene.
neXtProt	NX_O43248.
PharmGKB	PA29398.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG298161.
HOGENOM	HOG000231898.
HOVERGEN	HBG052048.
InParanoid	O43248.
KO	K09296.
OrthoDB	EOG4J3WHN.
PhylomeDB	O43248.
Gene expression databases
Bgee	O43248.
CleanEx	HS_HOXC11.
Genevestigator	O43248.
GermOnline	ENSG00000123388. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR021918. DUF3528. IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF12045. DUF3528. 1 hit. PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
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	3227.
NextBio	12843.
SOURCE	Search...

Entry information

Entry name

HXC11_HUMAN

Accession

Primary (citable) accession number: O43248
Secondary accession number(s): A8K7D1, Q96DH2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	June 1, 1998
Last modified:	May 1, 2013
This is version 123 of the entry and version 1 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.