Q6PML9 (ZNT9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc transporter 9
Short name=ZnT-9

Alternative name(s):
Human embryonic lung protein
Short name=HuEL
Solute carrier family 30 member 9

Gene names

Name:	SLC30A9
Synonyms:	C4orf1, HUEL

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

General annotation (Comments)

Function	Plays a role in the p160 coactivator signaling pathway that mediates transcriptional activation by nuclear receptors By similarity. Plays a role in transcriptional activation of Wnt-responsive genes By similarity. Ref.1
Subunit structure	Interacts with GRIP1, ESR1 and AR By similarity.
Subcellular location	Membrane; Multi-pass membrane protein Potential. Nucleus Ref.1.
Tissue specificity	Ubiquitously expressed in fetal and adult tissues and cancer cell lines. Ref.1
Sequence similarities	Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. [View classification]
Sequence caution	The sequence AAP83846.1 differs from that shown. Reason: Unlikely isoform. Aberrant splice sites. The sequence AAY40966.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Ion transport Transcription Transcription regulation Transport Zinc transport
Cellular component	Membrane Nucleus
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Zinc
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nucleotide-excision repair Traceable author statement PubMed 17349999. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW zinc ion transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoskeleton Inferred from direct assay Ref.1. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	cation transmembrane transporter activity Inferred from electronic annotation. Source: InterPro chromatin binding Inferred from electronic annotation. Source: Compara ligand-dependent nuclear receptor transcription coactivator activity Inferred from electronic annotation. Source: Compara nucleotide binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 568

568

Zinc transporter 9

PRO_0000295805

Regions

Transmembrane

239 – 259

21

Helical; Potential

Transmembrane

314 – 334

21

Helical; Potential

Transmembrane

342 – 362

21

Helical; Potential

Transmembrane

392 – 412

21

Helical; Potential

Transmembrane

424 – 444

21

Helical; Potential

Motif

462 – 466

5

LXXLL motif

Natural variations

Natural variant

50

1

M → V. Ref.1 Ref.3 Ref.6
Corresponds to variant rs1047626 [ dbSNP | Ensembl ].

VAR_052003

Natural variant

97

1

T → A. Ref.1 Ref.3 Ref.6
Corresponds to variant rs2581423 [ dbSNP | Ensembl ].

VAR_052004

Natural variant

353

1

L → S.
Corresponds to variant rs1801962 [ dbSNP | Ensembl ].

VAR_052005

Experimental info

Sequence conflict

141

1

C → Y in AAP83846. Ref.3

Sequence conflict

356

1

E → V in AAP83846. Ref.3

Sequence conflict

401

1

V → A in AAH22981. Ref.6

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

568

Helix Strand Turn

Details...

Beta strand

129 – 132

4

Helix

133 – 139

7

Helix

144 – 149

6

Beta strand

167 – 169

3

Helix

170 – 180

11

Beta strand

181 – 183

3

Helix

184 – 209

26

Sequences

	Sequence		Length	Mass (Da)
	Q6PML9 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: CA59839CA983FDC2	FASTA	568	63,515
	10 20 30 40 50 60 MLPGLAAAAA HRCSWSSLCR LRLRCRAAAC NPSDRQEWQN LVTFGSFSNM VPCSHPYIGT 70 80 90 100 110 120 LSQVKLYSTN VQKEGQGSQT LRVEKVPSFE TAEGIGTELK APLKQEPLQV RVKAVLKKRE 130 140 150 160 170 180 YGSKYTQNNF ITGVRAINEF CLKSSDLEQL RKIRRRSPHE DTESFTVYLR SDVEAKSLEV 190 200 210 220 230 240 WGSPEALARE KKLRKEAEIE YRERLFRNQK ILREYRDFLG NTKPRSRTAS VFFKGPGKVV 250 260 270 280 290 300 MVAICINGLN CFFKFLAWIY TGSASMFSEA IHSLSDTCNQ GLLALGISKS VQTPDPSHPY 310 320 330 340 350 360 GFSNMRYISS LISGVGIFMM GAGLSWYHGV MGLLHPQPIE SLLWAYCILA GSLVSEGATL 370 380 390 400 410 420 LVAVNELRRN ARAKGMSFYK YVMESRDPST NVILLEDTAA VLGVIIAATC MGLTSITGNP 430 440 450 460 470 480 LYDSLGSLGV GTLLGMVSAF LIYTNTEALL GRSIQPEQVQ RLTELLENDP SVRAIHDVKA 490 500 510 520 530 540 TDLGLGKVRF KAEVDFDGRV VTRSYLEKQD FDQMLQEIQE VKTPEELETF MLKHGENIID 550 560 TLGAEVDRLE KELKKRNPEV RHVDLEIL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The novel human HUEL (C4orf1) gene maps to chromosome 4p12-p13 and encodes a nuclear protein containing the nuclear receptor interaction motif." Sim D.L.C., Chow V.T.K. Genomics 59:224-233(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS VAL-50 AND ALA-97. Tissue: Lung.
[2]	Chow V.T.K., Sim D.L.C. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION TO 160; 174 AND 196. Tissue: Lung.
[3]	"A human HUEL (C4orf1) isoform play the role in spermatogenesis." Xu Z.Y., Huang X.Y., Xu M., Yin L.L., Lu L., Li J.M., Zhou Z.M., Sha J.H. Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-50 AND ALA-97. Tissue: Testis.
[4]	Luo W., Sedehizade F., Hanck T., Reiser G. Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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 VAL-50 AND ALA-97. Tissue: Cervix, Colon and Muscle.
[7]	"Solution structure of a putative DNA-binding domain of the human solute carrier family 30 (zinc transporter) protein." RIKEN structural genomics initiative (RSGI) Submitted (FEB-2009) to the PDB data bank Cited for: STRUCTURE BY NMR OF 124-217.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF006621 mRNA. Translation: AAB87763.2.
AY319413 mRNA. Translation: AAP83846.1. Sequence problems.
AY594282 mRNA. Translation: AAT02479.1.
AC113151 Genomic DNA. Translation: AAY40966.1. Sequence problems.
BC007732 mRNA. Translation: AAH07732.1.
BC016949 mRNA. Translation: AAH16949.1.
BC022981 mRNA. Translation: AAH22981.1.

IPI

IPI00552548.

RefSeq

NP_006336.3. NM_006345.3.

UniGene

Hs.479634.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2ENK	NMR	-	A	124-217	[»]

ProteinModelPortal

Q6PML9.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q6PML9. 3 interactions.

STRING

9606.ENSP00000264451.

Protein family/group databases

TCDB

2.A.4.6.1. cation diffusion facilitator (CDF) family.

PTM databases

PhosphoSite

Q6PML9.

Polymorphism databases

DMDM

74722746.

Proteomic databases

PaxDb

Q6PML9.

PRIDE

Q6PML9.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000264451; ENSP00000264451; ENSG00000014824.

GeneID

10463.

KEGG

hsa:10463.

UCSC

uc003gwl.3. human.

Organism-specific databases

CTD

10463.

GeneCards

GC04P041992.

H-InvDB

HIX0004181.

HGNC

HGNC:1329. SLC30A9.

HPA

HPA004014.

MIM

604604. gene.

neXtProt

NX_Q6PML9.

PharmGKB

PA25909.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0053.

HOGENOM

HOG000242618.

HOVERGEN

HBG104893.

InParanoid

Q6PML9.

KO

K14696.

OMA

PKYTQNN.

OrthoDB

EOG4KD6KT.

Gene expression databases

ArrayExpress

Q6PML9.

Bgee

Q6PML9.

CleanEx

HS_SLC30A9.

Genevestigator

Q6PML9.

Family and domain databases

Gene3D

1.20.1510.10. 1 hit.
3.90.530.10. 1 hit.

InterPro

IPR002524. Cation_efflux.
IPR027469. Cation_efflux_TMD.
IPR009061. DNA-bd_dom_put.
IPR022656. XPA_C.
[Graphical view]

Pfam

PF01545. Cation_efflux. 1 hit.
[Graphical view]

SUPFAM

SSF46955. Putativ_DNA_bind. 1 hit.

TIGRFAMs

TIGR01297. CDF. 1 hit.

ProtoNet

Search...

Other

ChiTaRS

SLC30A9. human.

EvolutionaryTrace

Q6PML9.

GenomeRNAi

10463.

NextBio

39677.

SOURCE

Search...

Entry information

Entry name

ZNT9_HUMAN

Accession

Primary (citable) accession number: Q6PML9
Secondary accession number(s): Q4W5B6 , Q7Z5I7, Q8TBB2, Q9Y6R2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 24, 2007
Last sequence update:	July 5, 2004
Last modified:	May 29, 2013
This is version 76 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.