NKAI2_HUMAN
ID NKAI2_HUMAN Reviewed; 208 AA.
AC Q5VXU1; Q8IYR4; Q8TF67;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2;
DE Short=Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2;
DE AltName: Full=Protein FAM77B;
DE AltName: Full=T-cell lymphoma breakpoint-associated target protein 1;
GN Name=NKAIN2; Synonyms=FAM77B, TCBA1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), CHROMOSOMAL REARRANGEMENT, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=11979551; DOI=10.1002/gcc.10057;
RA Tagawa H., Miura I., Suzuki R., Suzuki H., Hosokawa Y., Seto M.;
RT "Molecular cytogenetic analysis of the breakpoint region at 6q21-22 in T-
RT cell lymphoma/leukemia cell lines.";
RL Genes Chromosomes Cancer 34:175-185(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBUNIT: Interacts with ATP1B1. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VXU1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VXU1-2; Sequence=VSP_021902;
CC Name=3;
CC IsoId=Q5VXU1-3; Sequence=VSP_029298;
CC -!- TISSUE SPECIFICITY: Expressed in fetal brain. Weakly expressed in adult
CC brain and thymus. Not expressed in any other normal tissue examined.
CC {ECO:0000269|PubMed:11979551}.
CC -!- DISEASE: Note=A chromosomal aberration involving NKAIN2 is a cause of
CC lymphoma. Deletion del(6)(q13q21) within NKAIN2 and involving SUSP1
CC generates the SUSP1-NKAIN2 product (PubMed:11979551).
CC {ECO:0000269|PubMed:11979551}.
CC -!- SIMILARITY: Belongs to the NKAIN family. {ECO:0000305}.
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DR EMBL; AB070452; BAB85477.1; -; mRNA.
DR EMBL; AL354936; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356605; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL121968; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136224; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC035062; AAH35062.1; -; mRNA.
DR CCDS; CCDS34526.1; -. [Q5VXU1-1]
DR RefSeq; NP_001035304.1; NM_001040214.2. [Q5VXU1-1]
DR RefSeq; NP_001287666.1; NM_001300737.1. [Q5VXU1-3]
DR RefSeq; NP_001287667.1; NM_001300738.1.
DR RefSeq; NP_001287669.1; NM_001300740.1.
DR RefSeq; NP_699186.2; NM_153355.4.
DR AlphaFoldDB; Q5VXU1; -.
DR SMR; Q5VXU1; -.
DR STRING; 9606.ENSP00000357402; -.
DR TCDB; 8.A.118.1.3; the na+k+-atpase beta-subunit interacting nkain (nkain) family.
DR iPTMnet; Q5VXU1; -.
DR PhosphoSitePlus; Q5VXU1; -.
DR BioMuta; NKAIN2; -.
DR DMDM; 74747583; -.
DR MassIVE; Q5VXU1; -.
DR PaxDb; Q5VXU1; -.
DR PeptideAtlas; Q5VXU1; -.
DR PRIDE; Q5VXU1; -.
DR ProteomicsDB; 65610; -. [Q5VXU1-1]
DR ProteomicsDB; 65612; -. [Q5VXU1-3]
DR Antibodypedia; 51965; 66 antibodies from 15 providers.
DR DNASU; 154215; -.
DR Ensembl; ENST00000368416.5; ENSP00000357401.1; ENSG00000188580.15. [Q5VXU1-2]
DR Ensembl; ENST00000368417.6; ENSP00000357402.1; ENSG00000188580.15. [Q5VXU1-1]
DR Ensembl; ENST00000545433.2; ENSP00000437798.2; ENSG00000188580.15. [Q5VXU1-3]
DR GeneID; 154215; -.
DR KEGG; hsa:154215; -.
DR MANE-Select; ENST00000368417.6; ENSP00000357402.1; NM_001040214.3; NP_001035304.1.
DR UCSC; uc003pzn.2; human. [Q5VXU1-1]
DR CTD; 154215; -.
DR DisGeNET; 154215; -.
DR GeneCards; NKAIN2; -.
DR HGNC; HGNC:16443; NKAIN2.
DR HPA; ENSG00000188580; Tissue enriched (brain).
DR MIM; 609758; gene.
DR neXtProt; NX_Q5VXU1; -.
DR OpenTargets; ENSG00000188580; -.
DR PharmGKB; PA162397563; -.
DR VEuPathDB; HostDB:ENSG00000188580; -.
DR eggNOG; KOG4556; Eukaryota.
DR GeneTree; ENSGT00940000160565; -.
DR HOGENOM; CLU_090781_0_1_1; -.
DR InParanoid; Q5VXU1; -.
DR OMA; AWLVIWM; -.
DR OrthoDB; 1281511at2759; -.
DR PhylomeDB; Q5VXU1; -.
DR TreeFam; TF321348; -.
DR PathwayCommons; Q5VXU1; -.
DR BioGRID-ORCS; 154215; 22 hits in 1059 CRISPR screens.
DR ChiTaRS; NKAIN2; human.
DR GenomeRNAi; 154215; -.
DR Pharos; Q5VXU1; Tbio.
DR PRO; PR:Q5VXU1; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5VXU1; protein.
DR Bgee; ENSG00000188580; Expressed in C1 segment of cervical spinal cord and 125 other tissues.
DR ExpressionAtlas; Q5VXU1; baseline and differential.
DR Genevisible; Q5VXU1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0002028; P:regulation of sodium ion transport; IBA:GO_Central.
DR InterPro; IPR008516; Na/K-Atpase_Interacting.
DR PANTHER; PTHR13084; PTHR13084; 1.
DR Pfam; PF05640; NKAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Chromosomal rearrangement; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..208
FT /note="Sodium/potassium-transporting ATPase subunit beta-1-
FT interacting protein 2"
FT /id="PRO_0000265088"
FT TRANSMEM 1..23
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 35..55
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..82
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 153..173
FT /note="Helical"
FT /evidence="ECO:0000255"
FT SITE 91..92
FT /note="Breakpoint for interstitial deletion to form SUSP1-
FT NKAIN2"
FT VAR_SEQ 1..18
FT /note="MGYCSGRCTLIFICGMQL -> MGIIRFLLLYCPTNILT (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029298"
FT VAR_SEQ 159..208
FT /note="LAGFIYACYVVKCITEEEDSFDFIGGFDSYGYQGPQKTSHLQLQPMYMSK
FT -> VSVGSQPLLLVPLGLFYFCANSVHTNGICG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11979551"
FT /id="VSP_021902"
SQ SEQUENCE 208 AA; 23831 MW; 4877099BF4493A22 CRC64;
MGYCSGRCTL IFICGMQLVC VLERQIFDFL GYQWAPILAN FVHIIIVILG LFGTIQYRPR
YITGYAVWLV LWVTWNVFVI CFYLEAGDLS KETDLILTFN ISMHRSWWME NGPGCTVTSV
TPAPDWAPED HRYITVSGCL LEYQYIEVAH SSLQIVLALA GFIYACYVVK CITEEEDSFD
FIGGFDSYGY QGPQKTSHLQ LQPMYMSK
