Reviewed, UniProtKB/Swiss-Prot Q9XRX5 (HHLA3_HUMAN)

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

General annotation (Comments)

Tissue specificity

Expressed in kidney and liver. Ref.1

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	Complete 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	1	EBI-750554,EBI-372942

Alternative products

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

Isoform 1 (identifier: Q9XRX5-1)

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:
     55-86: Missing.

Isoform 3 (identifier: Q9XRX5-3)

Also known as: type 1;

The sequence of this isoform differs from the canonical sequence as follows:
     54-153: CTKLANMYST...PEASEESQKK → LSTERGPYPDPKRAFLDLLQERI

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 153	153	HERV-H LTR-associating protein 3		PRO_0000249708
Natural variations
	Alternative sequence	54 – 153	100	CTKLA…ESQKK → LSTERGPYPDPKRAFLDLLQ ERI in isoform 3.		VSP_020542
	Alternative sequence	55 – 86	32	Missing in isoform 2.		VSP_020543
Experimental info
	Sequence conflict	27	1	R → G in AAD33288. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (type 3) [UniParc]. Last modified October 31, 2006. Version 2. Checksum: 9FE839C09E295B9A	FASTA	153	17,121
	10 20 30 40 50 60 MFGACYKQPL KPSGSEPPAE ECRMTPRHAG CDVTEMQRIL SQPTFTEHLL RAVCTKLANM 70 80 90 100 110 120 YSTSTDCREH CRRGMKAKQL KAERGGLVNG KGSLSRPQES ILGSLARKNL RRIHRVSLVM 130 140 150 CVRPLSPSKA IISPVTCMYT SRWPEASEES QKK
	Isoform 2 (type 2). 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). 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 13-153 (ISOFORM 1), 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]	"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: Bone marrow.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF126163 mRNA. Translation: AAD33288.1. AF126164 mRNA. Translation: AAD33289.1. AL158839 Genomic DNA. Translation: CAH70973.1. BC010922 mRNA. Translation: AAH10922.1.
IPI	IPI00386644. IPI00513880. IPI00795648.
RefSeq	NP_001026863.1. NP_001031722.1. NP_001031723.1.
UniGene	Hs.142245
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9XRX5. 1 interaction.
STRING	Q9XRX5.
Genome annotation databases
Ensembl	ENST00000432224; ENSP00000395155; ENSG00000197568; Homo sapiens. [Genome view]
GeneID	11147.
KEGG	hsa:11147.
UCSC	uc001dez.1. human. uc001dfc.1. human.
Organism-specific databases
CTD	11147.
GeneCards	GC01P070532.
HGNC	HGNC:4906. HHLA3.
MIM	604372. gene.
PharmGKB	PA29279.
GenAtlas	Search...
Gene expression databases
ArrayExpress	Q9XRX5.
Bgee	Q9XRX5.
CleanEx	HS_HHLA3.
Genevestigator	Q9XRX5.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	42376.
SOURCE	Search...

Entry information

Entry name

HHLA3_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	October 31, 2006
Last modified:	November 24, 2009
This is version 43 of the entry and version 2 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.