Reviewed, UniProtKB/Swiss-Prot Q6NTF7 (ABC3H_HUMAN)

Names and origin

Protein names

Recommended name:
    DNA dC->dU-editing enzyme APOBEC-3H
    EC=3.5.4.-
Alternative name(s):
    Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H
    APOBEC-related protein 10
      Short name=ARP-10

Gene names

Name:

APOBEC3H

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

General annotation (Comments)

Function	Poorly expressed deaminase that is ineffective at inhibiting retroviral replication. Has DNA deaminase (cytidine deaminase) activity but is not able to mediate G-to-A hypermutation in newly synthesized retroviral DNA. Ref.5 Ref.6
Cofactor	Zinc By similarity.
Tissue specificity	Present at low level in 293T cells. Unstable protein, suggesting that it may be degraded by the proteasome (at protein level). Weakly expressed. Expressed in testis, ovary, fetal liver and skin. Ref.5
Miscellaneous	APOBEC3H from old world monkeys has retained its antiviral activity, while it is lost in other primates. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22.
Sequence similarities	Belongs to the cytidine and deoxycytidylate deaminase family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Ligand	Metal-binding Zinc
Molecular function	Hydrolase
Technical term	Complete proteome
Gene Ontology (GO)
Molecular function	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6NTF7-1) 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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q6NTF7-2) The sequence of this isoform differs from the canonical sequence as follows:      182-200: IPGVRAQGRYMDILCDAEV → S
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Sequence conflict	182	1	S → QS in BQ052182. Ref.3

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 200	200	DNA dC->dU-editing enzyme APOBEC-3H		PRO_0000291663
Regions
	Coiled coil	160 – 182	23	Potential
Sites
	Active site	56	1	Proton donor By similarity
	Metal binding	54	1	Zinc By similarity
	Metal binding	85	1	Zinc By similarity
	Metal binding	88	1	Zinc By similarity
Natural variations
	Alternative sequence	182 – 200	19	IPGVR…CDAEV → S in isoform 2.		VSP_035034
	Natural variant	18	1	R → L: dbSNP rs139293. Ref.1		VAR_032835
	Natural variant	105	1	G → R: dbSNP rs139297. Ref.1		VAR_032836
	Natural variant	121	1	K → E: dbSNP rs139298.		VAR_032837
	Natural variant	121	1	K → N: dbSNP rs139299.		VAR_032838
	Natural variant	178	1	E → D: dbSNP rs139302. Ref.1		VAR_032839
Experimental info
	Sequence conflict	15	1	Missing in CAG30367. Ref.1
	Sequence conflict	121	1	K → D in CAG30367. Ref.1
	Sequence conflict	140	1	K → E in CAG30367. Ref.1
	Sequence conflict	140	1	K → E in AAH69023. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 2, 2008. Version 3. Checksum: 6F89E0138CC29386	FASTA	200	23,531
	10 20 30 40 50 60 MALLTAETFR LQFNNKRRLR RPYYPRKALL CYQLTPQNGS TPTRGYFENK KKCHAEICFI 70 80 90 100 110 120 NEIKSMGLDE TQCYQVTCYL TWSPCSSCAW ELVDFIKAHD HLNLGIFASR LYYHWCKPQQ 130 140 150 160 170 180 KGLRLLCGSQ VPVEVMGFPK FADCWENFVD HEKPLSFNPY KMLEELDKNS RAIKRRLERI 190 200 KIPGVRAQGR YMDILCDAEV
	Isoform 2. Checksum: 96BDB820405132F0	FASTA	182	21,530
	10 20 30 40 50 60 MALLTAETFR LQFNNKRRLR RPYYPRKALL CYQLTPQNGS TPTRGYFENK KKCHAEICFI 70 80 90 100 110 120 NEIKSMGLDE TQCYQVTCYL TWSPCSSCAW ELVDFIKAHD HLNLGIFASR LYYHWCKPQQ 130 140 150 160 170 180 KGLRLLCGSQ VPVEVMGFPK FADCWENFVD HEKPLSFNPY KMLEELDKNS RAIKRRLERI KS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS LEU-18; ARG-105 AND ASP-178.
[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: 10591208] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Astrocyte.
[4]	"Messenger RNA editing in mammals: new members of the APOBEC family seeking roles in the family business." Wedekind J.E., Dance G.S.C., Sowden M.P., Smith H.C. Trends Genet. 19:207-216(2003) [PubMed: 12683974] [Abstract] Cited for: REVIEW ON APOBEC FAMILY.
[5]	"Adaptive evolution and antiviral activity of the conserved mammalian cytidine deaminase APOBEC3H." OhAinle M., Kerns J.A., Malik H.S., Emerman M. J. Virol. 80:3853-3862(2006) [PubMed: 16571802] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY.
[6]	"Identification of APOBEC3DE as another antiretroviral factor from the human APOBEC family." Dang Y., Wang X., Esselman W.J., Zheng Y.-H. J. Virol. 80:10522-10533(2006) [PubMed: 16920826] [Abstract] Cited for: FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	CR456481 mRNA. Translation: CAG30367.3. AL031846 Genomic DNA. Translation: CAQ07272.1. AL031846 Genomic DNA. Translation: CAQ07273.1. BC069023 mRNA. Translation: AAH69023.1. BQ052182 mRNA. No translation available.
IPI	IPI00472346. IPI00873390.
RefSeq	NP_001159474.1. NP_001159475.1.
UniGene	Hs.440515
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q6NTF7.
Genome annotation databases
Ensembl	ENST00000401756; ENSP00000385741; ENSG00000100298; Homo sapiens. [Genome view] ENST00000448746; ENSP00000388717; ENSG00000100298; Homo sapiens. [Genome view]
GeneID	164668.
Organism-specific databases
GeneCards	GC22P037823.
HGNC	HGNC:24100. APOBEC3H.
MIM	610976. gene.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q6NTF7.
OMA	VTCYLTW
OrthoDB	EOG934ZRM
Gene expression databases
ArrayExpress	Q6NTF7.
Bgee	Q6NTF7.
CleanEx	HS_APOBEC3H.
Genevestigator	Q6NTF7.
Family and domain databases
InterPro	IPR016192. APOBEC/CMP_deaminase_Zn-bd. IPR007904. APOBEC_C. IPR013158. APOBEC_N. IPR016193. Cytidine_deaminase-like. [Graphical view]
Pfam	PF05240. APOBEC_C. 1 hit. PF08210. APOBEC_N. 1 hit. [Graphical view]
PROSITE	PS00903. CYT_DCMP_DEAMINASES. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

ABC3H_HUMAN

Accession

Primary (citable) accession number: Q6NTF7
Secondary accession number(s): B0QYP0 , B0QYP1, Q5JYL9, Q6IC87

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	September 2, 2008
Last modified:	November 24, 2009
This is version 40 of the entry and version 3 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.