Q9XRX5 (HHLA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HERV-H LTR-associating protein 3

Alternative name(s):
Human endogenous retrovirus-H long terminal repeat-associating protein 3

Gene names

Name:

HHLA3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	114 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Expressed in kidney and liver. Ref.1
Sequence caution	The sequence AAD33288.1 differs from that shown. Reason: Frameshift at position 72.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NMI	Q13287	2	EBI-750554,EBI-372942

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 4 (identifier: Q9XRX5-4)

Also known as: type 3;

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: Q9XRX5-2)

Also known as: type 2;

The sequence of this isoform differs from the canonical sequence as follows:
     55-114: TKLANMYSTS...SCKKEFEANP → LVNGKGSLSR...PEASEESQKK

Isoform 3 (identifier: Q9XRX5-3)

Also known as: type 1;

The sequence of this isoform differs from the canonical sequence as follows:
     54-114: CTKLANMYST...SCKKEFEANP → LSTERGPYPDPKRAFLDLLQERI

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 114	114	HERV-H LTR-associating protein 3		PRO_0000249708
Natural variations
	Alternative sequence	54 – 114	61	CTKLA…FEANP → LSTERGPYPDPKRAFLDLLQ ERI in isoform 3.		VSP_020542
	Alternative sequence	55 – 114	60	TKLAN…FEANP → LVNGKGSLSRPQESILGSLA RKNLRRIHRVSLVMCVRPLS PSKAIISPVTCMYTSRWPEA SEESQKK in isoform 2.		VSP_041094
Experimental info
	Sequence conflict	27	1	R → G in AAD33288. Ref.1
	Sequence conflict	85	1	G → W in AAD33288. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 4 (type 3) [UniParc]. Last modified May 31, 2011. Version 3. Checksum: 354B823F63F2E229	FASTA	114	12,913
	10 20 30 40 50 60 MFGACYKQPL KPSGSEPPAE ECRMTPRHAG CDVTEMQRIL SQPTFTEHLL RAVCTKLANM 70 80 90 100 110 YSTSTDCREH CRRGMKAKQL KAEAGRSCQR KGVPIQTPRE HSWISCKKEF EANP
	Isoform 2 (type 2) [UniParc]. Checksum: FB8C05CB55AB644A	FASTA	121	13,511
	10 20 30 40 50 60 MFGACYKQPL KPSGSEPPAE ECRMTPRHAG CDVTEMQRIL SQPTFTEHLL RAVCLVNGKG 70 80 90 100 110 120 SLSRPQESIL GSLARKNLRR IHRVSLVMCV RPLSPSKAII SPVTCMYTSR WPEASEESQK K
	Isoform 3 (type 1) [UniParc]. Checksum: 0B69EE4E25EC5C9F	FASTA	76	8,644
	10 20 30 40 50 60 MFGACYKQPL KPSGSEPPAE ECRMTPRHAG CDVTEMQRIL SQPTFTEHLL RAVLSTERGP 70 YPDPKRAFLD LLQERI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Endogenous retroviruses provide the primary polyadenylation signal for two new human genes (HHLA2 and HHLA3)." Mager D.L., Hunter D.G., Schertzer M., Freeman J.D. Genomics 59:255-263(1999) [PubMed: 10444326] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [MRNA] OF 13-114 (ISOFORM 4), ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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 (SEP-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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 2). Tissue: Bone marrow.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF126163 mRNA. Translation: AAD33288.1. Frameshift. AF126164 mRNA. Translation: AAD33289.1. AL158839 Genomic DNA. Translation: CAH70973.1. CH471059 Genomic DNA. Translation: EAX06452.1. CH471059 Genomic DNA. Translation: EAX06455.1. BC010922 mRNA. Translation: AAH10922.1. BG773961 mRNA. No translation available.
IPI	IPI00386644. IPI00479633. IPI00513880.
RefSeq	NP_001026863.1. NM_001031693.2. NP_001031722.1. NM_001036645.1. NP_001031723.1. NM_001036646.1.
UniGene	Hs.142245.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9XRX5. 1 interaction.
STRING	Q9XRX5.
Polymorphism databases
DMDM	126307775.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000432224; ENSP00000395155; ENSG00000197568.
GeneID	11147.
KEGG	hsa:11147.
UCSC	uc001dez.1. human. uc001dfc.1. human.
Organism-specific databases
CTD	11147.
GeneCards	GC01P070820.
HGNC	HGNC:4906. HHLA3.
HPA	HPA031323.
MIM	604372. gene.
neXtProt	NX_Q9XRX5.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00410000028138.
Gene expression databases
ArrayExpress	Q9XRX5.
Bgee	Q9XRX5.
CleanEx	HS_HHLA3.
Genevestigator	Q9XRX5.
Family and domain databases
ProtoNet	Search...
Other
NextBio	42376.
SOURCE	Search...

Entry information

Entry name

HHLA3_HUMAN

Accession

Primary (citable) accession number: Q9XRX5
Secondary accession number(s): D3DQ74, Q96FH5, Q9XRX4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	May 31, 2011
Last modified:	January 25, 2012
This is version 55 of the entry and version 3 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.