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Protein

HERV-H LTR-associating protein 3

Gene

HHLA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
HERV-H LTR-associating protein 3
Alternative name(s):
Human endogenous retrovirus-H long terminal repeat-associating protein 3
Gene namesi
Name:HHLA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:4906. HHLA3.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29279.

Polymorphism and mutation databases

BioMutaiHHLA3.
DMDMi334302897.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 114114HERV-H LTR-associating protein 3PRO_0000249708Add
BLAST

Proteomic databases

PaxDbiQ9XRX5.
PRIDEiQ9XRX5.

Expressioni

Tissue specificityi

Expressed in kidney and liver.1 Publication

Gene expression databases

BgeeiQ9XRX5.
CleanExiHS_HHLA3.
ExpressionAtlasiQ9XRX5. baseline and differential.
GenevisibleiQ9XRX5. HS.

Organism-specific databases

HPAiHPA031323.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NMIQ132875EBI-750554,EBI-372942
NMIQ8WTW23EBI-750554,EBI-10174268

Protein-protein interaction databases

BioGridi116319. 1 interaction.
IntActiQ9XRX5. 2 interactions.
STRINGi9606.ENSP00000359978.

Structurei

3D structure databases

ProteinModelPortaliQ9XRX5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410KCAI. Eukaryota.
ENOG4110P5X. LUCA.
GeneTreeiENSGT00410000028138.
HOGENOMiHOG000185153.
OMAiTSRWPEA.
OrthoDBiEOG7034KR.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 4 (identifier: Q9XRX5-4) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MFGACYKQPL KPSGSEPPAE ECRMTPRHAG CDVTEMQRIL SQPTFTEHLL
60 70 80 90 100
RAVCTKLANM YSTSTDCREH CRRGMKAKQL KAEAGRSCQR KGVPIQTPRE
110
HSWISCKKEF EANP
Length:114
Mass (Da):12,913
Last modified:May 31, 2011 - v3
Checksum:i354B823F63F2E229
GO
Isoform 2 (identifier: Q9XRX5-2) [UniParc]FASTAAdd to basket

Also known as: type 2

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

Show »
Length:121
Mass (Da):13,511
Checksum:iFB8C05CB55AB644A
GO
Isoform 3 (identifier: Q9XRX5-3) [UniParc]FASTAAdd to basket

Also known as: type 1

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

Show »
Length:76
Mass (Da):8,644
Checksum:i0B69EE4E25EC5C9F
GO

Sequence cautioni

The sequence AAD33288.1 differs from that shown. Reason: Frameshift at position 72. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti27 – 271R → G in AAD33288 (PubMed:10444326).Curated
Sequence conflicti85 – 851G → W in AAD33288 (PubMed:10444326).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei54 – 11461CTKLA…FEANP → LSTERGPYPDPKRAFLDLLQ ERI in isoform 3. 1 PublicationVSP_020542Add
BLAST
Alternative sequencei55 – 11460TKLAN…FEANP → LVNGKGSLSRPQESILGSLA RKNLRRIHRVSLVMCVRPLS PSKAIISPVTCMYTSRWPEA SEESQKK in isoform 2. 1 PublicationVSP_041094Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF126163 mRNA. Translation: AAD33288.1. Frameshift.
AF126164 mRNA. Translation: AAD33289.1.
AL158839 Genomic DNA. Translation: CAH70972.1.
AL158839 Genomic DNA. Translation: CAH70973.1.
CH471059 Genomic DNA. Translation: EAX06452.1.
CH471059 Genomic DNA. Translation: EAX06453.1.
CH471059 Genomic DNA. Translation: EAX06455.1.
BC010922 mRNA. Translation: AAH10922.1.
BG773961 mRNA. No translation available.
CCDSiCCDS30752.1. [Q9XRX5-2]
CCDS30753.1. [Q9XRX5-4]
CCDS649.1. [Q9XRX5-3]
RefSeqiNP_001026863.1. NM_001031693.2. [Q9XRX5-2]
NP_001031722.1. NM_001036645.1. [Q9XRX5-4]
NP_001031723.1. NM_001036646.1. [Q9XRX5-3]
UniGeneiHs.142245.

Genome annotation databases

EnsembliENST00000359875; ENSP00000352938; ENSG00000197568. [Q9XRX5-4]
ENST00000361764; ENSP00000354815; ENSG00000197568. [Q9XRX5-3]
ENST00000370940; ENSP00000359978; ENSG00000197568. [Q9XRX5-2]
ENST00000463058; ENSP00000432048; ENSG00000197568. [Q9XRX5-3]
ENST00000531950; ENSP00000431678; ENSG00000197568. [Q9XRX5-4]
GeneIDi11147.
KEGGihsa:11147.
UCSCiuc001dfa.4. human. [Q9XRX5-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF126163 mRNA. Translation: AAD33288.1. Frameshift.
AF126164 mRNA. Translation: AAD33289.1.
AL158839 Genomic DNA. Translation: CAH70972.1.
AL158839 Genomic DNA. Translation: CAH70973.1.
CH471059 Genomic DNA. Translation: EAX06452.1.
CH471059 Genomic DNA. Translation: EAX06453.1.
CH471059 Genomic DNA. Translation: EAX06455.1.
BC010922 mRNA. Translation: AAH10922.1.
BG773961 mRNA. No translation available.
CCDSiCCDS30752.1. [Q9XRX5-2]
CCDS30753.1. [Q9XRX5-4]
CCDS649.1. [Q9XRX5-3]
RefSeqiNP_001026863.1. NM_001031693.2. [Q9XRX5-2]
NP_001031722.1. NM_001036645.1. [Q9XRX5-4]
NP_001031723.1. NM_001036646.1. [Q9XRX5-3]
UniGeneiHs.142245.

3D structure databases

ProteinModelPortaliQ9XRX5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116319. 1 interaction.
IntActiQ9XRX5. 2 interactions.
STRINGi9606.ENSP00000359978.

Polymorphism and mutation databases

BioMutaiHHLA3.
DMDMi334302897.

Proteomic databases

PaxDbiQ9XRX5.
PRIDEiQ9XRX5.

Protocols and materials databases

DNASUi11147.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359875; ENSP00000352938; ENSG00000197568. [Q9XRX5-4]
ENST00000361764; ENSP00000354815; ENSG00000197568. [Q9XRX5-3]
ENST00000370940; ENSP00000359978; ENSG00000197568. [Q9XRX5-2]
ENST00000463058; ENSP00000432048; ENSG00000197568. [Q9XRX5-3]
ENST00000531950; ENSP00000431678; ENSG00000197568. [Q9XRX5-4]
GeneIDi11147.
KEGGihsa:11147.
UCSCiuc001dfa.4. human. [Q9XRX5-4]

Organism-specific databases

CTDi11147.
GeneCardsiHHLA3.
HGNCiHGNC:4906. HHLA3.
HPAiHPA031323.
MIMi604372. gene.
neXtProtiNX_Q9XRX5.
PharmGKBiPA29279.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCAI. Eukaryota.
ENOG4110P5X. LUCA.
GeneTreeiENSGT00410000028138.
HOGENOMiHOG000185153.
OMAiTSRWPEA.
OrthoDBiEOG7034KR.

Miscellaneous databases

GenomeRNAii11147.
PROiQ9XRX5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9XRX5.
CleanExiHS_HHLA3.
ExpressionAtlasiQ9XRX5. baseline and differential.
GenevisibleiQ9XRX5. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 2).
    Tissue: Bone marrow.

Entry informationi

Entry nameiHHLA3_HUMAN
AccessioniPrimary (citable) accession number: Q9XRX5
Secondary accession number(s): D3DQ74
, Q5VZP2, Q96FH5, Q9XRX4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 31, 2011
Last modified: June 8, 2016
This is version 86 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.