Reviewed, UniProtKB/Swiss-Prot O00244 (ATOX1_HUMAN)

Names and origin

Protein names

Recommended name:
    Copper transport protein ATOX1
Alternative name(s):
    Metal transport protein ATX1

Gene names

Name:	ATOX1
Synonyms:	HAH1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	68 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Could bind and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense.
Tissue specificity	Ubiquitous.
Sequence similarities	Belongs to the ATX1 family. Contains 1 HMA domain.

Ontologies

Keywords
Biological process	Copper transport Ion transport Transport
Ligand	Copper Metal-binding
Molecular function	Chaperone
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	cellular copper ion homeostasis Traceable author statement. Source: ProtInc copper ion transport Traceable author statement. Source: UniProtKB response to oxidative stress Traceable author statement. Source: ProtInc
Cellular component	cytosol Traceable author statement. Source: UniProtKB
Molecular function	copper chaperone activity Inferred from direct assay. Source: UniProtKB copper-dependent protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 68

68

Copper transport protein ATOX1

PRO_0000212537

Regions

Domain

2 – 68

67

HMA

Sites

Metal binding

12

1

Copper

Metal binding

15

1

Copper

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

68

Helix Strand Turn

Details...

Beta strand

3 – 8

6

Helix

13 – 26

14

Beta strand

28 – 34

7

Turn

35 – 38

4

Beta strand

39 – 46

8

Helix

48 – 56

9

Turn

57 – 59

3

Beta strand

62 – 66

5

Sequences

	Sequence		Length	Mass (Da)
	O00244-1 [UniParc]. Last modified July 1, 1997. Version 1. Checksum: 0B364B1BD1279314	FASTA	68	7,402
	10 20 30 40 50 60 MPKHEFSVDM TCGGCAEAVS RVLNKLGGVK YDIDLPNKKV CIESEHSMDT LLATLKKTGK TVSYLGLE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis." Klomp L.W.J., Lin S.-J., Yuan D.S., Klausner R.D., Culotta V.C., Gitlin J.D. J. Biol. Chem. 272:9221-9226(1997) [PubMed: 9083055] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver.
[2]	"Genomic organization of ATOX1, a human copper chaperone." Liu P.-C., Koeller D.M., Kaler S.G. BMC Genet. 4:4-4(2003) [PubMed: 12594858] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[5]	NIEHS SNPs program Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]	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].
[7]	"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].
[8]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[9]	"Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins." Wernimont A.K., Huffman D.L., Lamb A.L., O'Halloran T.V., Rosenzweig A.C. Nat. Struct. Biol. 7:766-771(2000) [PubMed: 10966647] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS).
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases

EMBLGenBankDDBJ

U70660 mRNA. Translation: AAC51227.1.
AY165037 Genomic DNA. Translation: AAN84554.1.
BT009786 mRNA. Translation: AAP88788.1.
AK293063 mRNA. Translation: BAF85752.1.
AY986502 Genomic DNA. Translation: AAX81411.1.
CH471062 Genomic DNA. Translation: EAW61663.1.
BC112248 mRNA. Translation: AAI12249.1.
BC112250 mRNA. Translation: AAI12251.1.

IPI

IPI00010863.

RefSeq

NP_004036.1.

UniGene

Hs.125213

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1FE0	X-ray	1.75	A/B	1-68	[»]
1FE4	X-ray	1.75	A/B	1-68	[»]
1FEE	X-ray	1.80	A/B	1-68	[»]
1TL4	NMR	-	A	1-68	[»]
1TL5	NMR	-	A	1-68	[»]
2K1R	NMR	-	B	1-68	[»]
3CJK	X-ray	1.80	A	2-68	[»]
3IWL	X-ray	1.60	A	1-68	[»]
3IWX	X-ray	2.14	A/B	1-68	[»]

ModBase

Search...

Protein-protein interaction databases

STRING

O00244.

Proteomic databases

PeptideAtlas

O00244.

PRIDE

O00244.

Genome annotation databases

Ensembl

ENST00000313115; ENSP00000316854; ENSG00000177556; Homo sapiens. [Genome view]

GeneID

475.

KEGG

hsa:475.

UCSC

uc003luk.1. human.

Organism-specific databases

CTD

475.

GeneCards

GC05M151102.

H-InvDB

HIX0020331.

HGNC

HGNC:798. ATOX1.

MIM

602270. gene.

PharmGKB

PA25096.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

O00244.

HOVERGEN

O00244.

OMA

VSYLGPK

OrthoDB

EOG9QC3R5

Gene expression databases

ArrayExpress

O00244.

Bgee

O00244.

CleanEx

HS_ATOX1.

Genevestigator

O00244.

GermOnline

ENSG00000177556. Homo sapiens.

Family and domain databases

InterPro

IPR017969. Heavy-metal-associated_CS.
IPR006121. HeavyMe_transpt.
[Graphical view]

Pfam

PF00403. HMA. 1 hit.
[Graphical view]

PROSITE

PS01047. HMA_1. 1 hit.
PS50846. HMA_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

1967.

SOURCE

Search...

Entry information

Entry name

ATOX1_HUMAN

Accession

Primary (citable) accession number: O00244
Secondary accession number(s): A8KAJ8, Q2M1R6, Q56AP3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	July 1, 1997
Last modified:	November 24, 2009
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.