Q6NT76 (HMBX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox-containing protein 1

Gene names

Name:

HMBOX1

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	420 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor. Isoform 1 acts as a transcriptional repressor. Isoform 4 has very low activity as a transcriptional repressor. Ref.1 Ref.2
Subcellular location	Nucleus. Cytoplasm. Note: Predominantly detected in cytoplasm. Ref.1 Ref.2
Tissue specificity	Ubiquitous. Detected in pancreas, brain, spleen, placenta, prostate, thymus, liver, heart, bone marrow, skeletal muscle, stomach, uterus, testis, kidney, ovary, and colon. Ref.1 Ref.2
Sequence similarities	Contains 1 homeobox DNA-binding domain.
Sequence caution	The sequence BAB15099.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Repressor
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of transcription, DNA-dependent Inferred from direct assay Ref.2. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: InterPro transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay Ref.2. Source: UniProtKB nucleus Inferred from direct assay Ref.2. Source: UniProtKB
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...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q6NT76-1)

Also known as: HMBOX1A;

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 2 (identifier: Q6NT76-2)

The sequence of this isoform differs from the canonical sequence as follows:
     344-344: Missing.
     377-420: DSTSHSDHQDPISLAVEMAAVNHTILALARQGANEIKTEALDDD → TWQVRNGEEEEGRSSEGGREAEKVEEERRI

Isoform 3 (identifier: Q6NT76-3)

The sequence of this isoform differs from the canonical sequence as follows:
     344-345: Missing.

Isoform 4 (identifier: Q6NT76-4)

Also known as: HMBOX1b;

The sequence of this isoform differs from the canonical sequence as follows:
     284-304: SYFNENQYPDEAKREEIANAC → RNTWSPERRMEENKWKLLSAG
     305-420: Missing.

Isoform 5 (identifier: Q6NT76-5)

The sequence of this isoform differs from the canonical sequence as follows:
     344-344: Missing.
     375-375: Q → QDTWQVRNGEEEEGRSSEGGREAEK

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 420

420

Homeobox-containing protein 1

PRO_0000233287

Regions

DNA binding

267 – 341

75

Homeobox

Natural variations

Alternative sequence

284 – 304

21

SYFNE…IANAC → RNTWSPERRMEENKWKLLSA G in isoform 4.

VSP_038983

Alternative sequence

305 – 420

116

Missing in isoform 4.

VSP_038984

Alternative sequence

344 – 345

2

Missing in isoform 3.

VSP_018111

Alternative sequence

344

1

Missing in isoform 2 and isoform 5.

VSP_018112

Alternative sequence

375

1

Q → QDTWQVRNGEEEEGRSSEGG REAEK in isoform 5.

VSP_038985

Alternative sequence

377 – 420

44

DSTSH…ALDDD → TWQVRNGEEEEGRSSEGGRE AEKVEEERRI in isoform 2.

VSP_018113

Experimental info

Sequence conflict

167

1

R → G in AAZ81565. Ref.6

Secondary structure

1

.

.

.

.

.

.

.

.

.

420

Helix Strand Turn

Details...

Helix

276 – 288

13

Helix

294 – 308

15

Turn

317 – 319

3

Helix

323 – 342

20

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (HMBOX1A) [UniParc]. Last modified July 5, 2004. Version 1. Checksum: BB47AB7DE3B96996	FASTA	420	47,278
	10 20 30 40 50 60 MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL DRLDQEHSDK 70 80 90 100 110 120 FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS PSNSYDTSPQ PCTTNQNGRE 130 140 150 160 170 180 NNERLSTSNG KMSPTRYHAN SMGQRSYSFE ASEEDLDVDD KVEELMRRDS SVIKEEIKAF 190 200 210 220 230 240 LANRRISQAV VAQVTGISQS RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP 250 260 270 280 290 300 APIPIEDPEW RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI 310 320 330 340 350 360 ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIEAAILES HGIDVQSPGG 370 380 390 400 410 420 HSNSDDVDGN DYSEQDDSTS HSDHQDPISL AVEMAAVNHT ILALARQGAN EIKTEALDDD
	Isoform 2 [UniParc]. Checksum: 880A0A8CB7FD20CC	FASTA	405	45,981
	10 20 30 40 50 60 MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL DRLDQEHSDK 70 80 90 100 110 120 FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS PSNSYDTSPQ PCTTNQNGRE 130 140 150 160 170 180 NNERLSTSNG KMSPTRYHAN SMGQRSYSFE ASEEDLDVDD KVEELMRRDS SVIKEEIKAF 190 200 210 220 230 240 LANRRISQAV VAQVTGISQS RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP 250 260 270 280 290 300 APIPIEDPEW RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI 310 320 330 340 350 360 ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIAAILESH GIDVQSPGGH 370 380 390 400 SNSDDVDGND YSEQDTWQVR NGEEEEGRSS EGGREAEKVE EERRI
	Isoform 3 [UniParc]. Checksum: C4AD3336D2DDE2A5	FASTA	418	47,078
	10 20 30 40 50 60 MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL DRLDQEHSDK 70 80 90 100 110 120 FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS PSNSYDTSPQ PCTTNQNGRE 130 140 150 160 170 180 NNERLSTSNG KMSPTRYHAN SMGQRSYSFE ASEEDLDVDD KVEELMRRDS SVIKEEIKAF 190 200 210 220 230 240 LANRRISQAV VAQVTGISQS RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP 250 260 270 280 290 300 APIPIEDPEW RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI 310 320 330 340 350 360 ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIAILESHG IDVQSPGGHS 370 380 390 400 410 NSDDVDGNDY SEQDDSTSHS DHQDPISLAV EMAAVNHTIL ALARQGANEI KTEALDDD
	Isoform 4 (HMBOX1b) [UniParc]. Checksum: 0EC7468AFDEC2062	FASTA	304	34,629
	10 20 30 40 50 60 MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL DRLDQEHSDK 70 80 90 100 110 120 FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS PSNSYDTSPQ PCTTNQNGRE 130 140 150 160 170 180 NNERLSTSNG KMSPTRYHAN SMGQRSYSFE ASEEDLDVDD KVEELMRRDS SVIKEEIKAF 190 200 210 220 230 240 LANRRISQAV VAQVTGISQS RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP 250 260 270 280 290 300 APIPIEDPEW RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMERNTWSPE RRMEENKWKL LSAG
	Isoform 5 [UniParc]. Checksum: 55213CEAF72622C7	FASTA	443	49,867
	10 20 30 40 50 60 MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL DRLDQEHSDK 70 80 90 100 110 120 FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS PSNSYDTSPQ PCTTNQNGRE 130 140 150 160 170 180 NNERLSTSNG KMSPTRYHAN SMGQRSYSFE ASEEDLDVDD KVEELMRRDS SVIKEEIKAF 190 200 210 220 230 240 LANRRISQAV VAQVTGISQS RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP 250 260 270 280 290 300 APIPIEDPEW RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI 310 320 330 340 350 360 ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIAAILESH GIDVQSPGGH 370 380 390 400 410 420 SNSDDVDGND YSEQDTWQVR NGEEEEGRSS EGGREAEKDD STSHSDHQDP ISLAVEMAAV 430 440 NHTILALARQ GANEIKTEAL DDD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and functional analysis of human HMBOX1, a homeobox containing protein with transcriptional repressor activity." Chen S., Saiyin H., Zeng X., Xi J., Liu X., Li X., Yu L. Cytogenet. Genome Res. 114:131-136(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Pancreas.
[2]	"Characterization of a novel human HMBOX1 splicing variant lacking the homeodomain and with attenuated transcription repressor activity." Zhang M., Chen S., Li Q., Ling Y., Zhang J., Yu L. Mol. Biol. Rep. 37:2767-2772(2010) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[3]	"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] (ISOFORMS 1 AND 5). Tissue: Caudate nucleus and Colon.
[4]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] (ISOFORMS 1 AND 2). Tissue: Brain and Ovary.
[6]	Zhou G., Nong W., Li H., Ke R., Shen C., Zhong G., Zheng Z., Liang M., Tang Z., Wen S., Lin L., Yang S. Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-420 (ISOFORM 3).
[7]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell.
[8]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[9]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]	"Solution structure of the homeobox domain of the human hypothetical protein FLJ21616." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 268-350.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY522342 mRNA. Translation: AAS76643.1.
DQ269478 mRNA. Translation: ABB82947.1.
AK025269 mRNA. Translation: BAB15099.1. Different initiation.
AK290683 mRNA. Translation: BAF83372.1.
AK295320 mRNA. Translation: BAG58297.1.
CH471080 Genomic DNA. Translation: EAW63496.1.
CH471080 Genomic DNA. Translation: EAW63499.1.
CH471080 Genomic DNA. Translation: EAW63500.1.
BC009259 mRNA. Translation: AAH09259.2.
BC069242 mRNA. Translation: AAH69242.1.
DQ153248 mRNA. Translation: AAZ81565.1.

IPI

IPI00002265.
IPI00074230.
IPI00748642.
IPI00845486.
IPI00956180.

RefSeq

NP_001129198.1. NM_001135726.1.
NP_078843.2. NM_024567.3.

UniGene

Hs.591836.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2CUF	NMR	-	A	268-343	[»]

ProteinModelPortal

Q6NT76.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q6NT76. 2 interactions.

STRING

9606.ENSP00000287701.

PTM databases

PhosphoSite

Q6NT76.

Polymorphism databases

DMDM

74758116.

Proteomic databases

PaxDb

Q6NT76.

PRIDE

Q6NT76.

Protocols and materials databases

DNASU

79618.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000287701; ENSP00000287701; ENSG00000147421.
ENST00000397358; ENSP00000380516; ENSG00000147421.
ENST00000403668; ENSP00000384261; ENSG00000147421.
ENST00000444075; ENSP00000401769; ENSG00000147421.
ENST00000521516; ENSP00000430238; ENSG00000147421.
ENST00000524238; ENSP00000430110; ENSG00000147421.
ENST00000558662; ENSP00000453211; ENSG00000147421.

GeneID

79618.

KEGG

hsa:79618.

UCSC

uc003xhd.4. human.
uc003xhf.3. human.
uc003xhg.3. human.
uc011lay.2. human.

Organism-specific databases

CTD

79618.

GeneCards

GC08P028805.

HGNC

HGNC:26137. HMBOX1.

neXtProt

NX_Q6NT76.

PharmGKB

PA143485490.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG85561.

HOVERGEN

HBG061176.

InParanoid

Q6NT76.

OMA

RRTGMTR.

OrthoDB

EOG49ZXPD.

PhylomeDB

Q6NT76.

Gene expression databases

ArrayExpress

Q6NT76.

Bgee

Q6NT76.

CleanEx

HS_HMBOX1.

Genevestigator

Q6NT76.

GermOnline

ENSG00000147421. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.60. 1 hit.
1.10.260.40. 1 hit.

InterPro

IPR006899. HNF-1_N.
IPR001356. Homeodomain.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]

Pfam

PF04814. HNF-1_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.
SSF47413. Lambda_like_DNA. 1 hit.

PROSITE

PS00027. HOMEOBOX_1. False negative.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

HMBOX1. human.

EvolutionaryTrace

Q6NT76.

GenomeRNAi

79618.

NextBio

68685.

Entry information

Entry name

HMBX1_HUMAN

Accession

Primary (citable) accession number: Q6NT76
Secondary accession number(s): A4K385 , A8K3R8, B4DHY5, D3DSU0, Q3Y6P1, Q96GS5, Q9H701

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2006
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 90 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.