AKND1_HUMAN
ID AKND1_HUMAN Reviewed; 836 AA.
AC Q5T1N1; B9EK62; Q5T1N0; Q8N990; Q8NCN9;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Protein AKNAD1;
GN Name=AKNAD1; Synonyms=C1orf62;
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 [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT ASN-61.
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASN-61 AND
RP LYS-616.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-61.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP GLY-167.
RC TISSUE=Testis;
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 636-836 (ISOFORM 4), AND VARIANT
RP TYR-654.
RC TISSUE=Colon;
RG The Cancer Genome Anatomy Project (CGAP) at the National Cancer Institute;
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
CC -!- INTERACTION:
CC Q5T1N1-2; Q14696: MESD; NbExp=3; IntAct=EBI-18898519, EBI-6165891;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q5T1N1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T1N1-2; Sequence=VSP_034460;
CC Name=3;
CC IsoId=Q5T1N1-3; Sequence=VSP_034461, VSP_034462;
CC Name=4;
CC IsoId=Q5T1N1-4; Sequence=VSP_034463, VSP_034464;
CC -!- SIMILARITY: Belongs to the AKNA family. {ECO:0000305}.
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DR EMBL; AK095517; BAC04565.1; -; mRNA.
DR EMBL; AL832216; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL449266; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471122; EAW56334.1; -; Genomic_DNA.
DR EMBL; CH471122; EAW56335.1; -; Genomic_DNA.
DR EMBL; BC030647; AAH30647.1; -; mRNA.
DR EMBL; BC150642; AAI50643.1; -; mRNA.
DR EMBL; AA527539; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS791.2; -. [Q5T1N1-1]
DR RefSeq; NP_689976.2; NM_152763.4. [Q5T1N1-1]
DR AlphaFoldDB; Q5T1N1; -.
DR SMR; Q5T1N1; -.
DR BioGRID; 129027; 13.
DR IntAct; Q5T1N1; 4.
DR STRING; 9606.ENSP00000359018; -.
DR iPTMnet; Q5T1N1; -.
DR PhosphoSitePlus; Q5T1N1; -.
DR BioMuta; AKNAD1; -.
DR DMDM; 317373483; -.
DR EPD; Q5T1N1; -.
DR MassIVE; Q5T1N1; -.
DR PaxDb; Q5T1N1; -.
DR PeptideAtlas; Q5T1N1; -.
DR PRIDE; Q5T1N1; -.
DR Antibodypedia; 33737; 26 antibodies from 8 providers.
DR DNASU; 254268; -.
DR Ensembl; ENST00000369995.7; ENSP00000359012.3; ENSG00000162641.20. [Q5T1N1-4]
DR Ensembl; ENST00000370001.8; ENSP00000359018.3; ENSG00000162641.20. [Q5T1N1-1]
DR Ensembl; ENST00000472781.2; ENSP00000432262.1; ENSG00000162641.20. [Q5T1N1-2]
DR Ensembl; ENST00000474186.5; ENSP00000436835.1; ENSG00000162641.20. [Q5T1N1-3]
DR GeneID; 254268; -.
DR KEGG; hsa:254268; -.
DR MANE-Select; ENST00000370001.8; ENSP00000359018.3; NM_152763.5; NP_689976.2.
DR UCSC; uc001dwa.5; human. [Q5T1N1-1]
DR CTD; 254268; -.
DR DisGeNET; 254268; -.
DR GeneCards; AKNAD1; -.
DR HGNC; HGNC:28398; AKNAD1.
DR HPA; ENSG00000162641; Tissue enriched (testis).
DR neXtProt; NX_Q5T1N1; -.
DR OpenTargets; ENSG00000162641; -.
DR PharmGKB; PA165750356; -.
DR VEuPathDB; HostDB:ENSG00000162641; -.
DR eggNOG; ENOG502RZDD; Eukaryota.
DR GeneTree; ENSGT00940000154254; -.
DR HOGENOM; CLU_021210_0_0_1; -.
DR InParanoid; Q5T1N1; -.
DR OMA; AQRWRNR; -.
DR OrthoDB; 437787at2759; -.
DR PhylomeDB; Q5T1N1; -.
DR TreeFam; TF335786; -.
DR PathwayCommons; Q5T1N1; -.
DR SignaLink; Q5T1N1; -.
DR BioGRID-ORCS; 254268; 10 hits in 1058 CRISPR screens.
DR GenomeRNAi; 254268; -.
DR Pharos; Q5T1N1; Tdark.
DR PRO; PR:Q5T1N1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T1N1; protein.
DR Bgee; ENSG00000162641; Expressed in right testis and 99 other tissues.
DR ExpressionAtlas; Q5T1N1; baseline and differential.
DR Genevisible; Q5T1N1; HS.
DR InterPro; IPR022150; AKNA_dom.
DR Pfam; PF12443; AKNA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..836
FT /note="Protein AKNAD1"
FT /id="PRO_0000342470"
FT REGION 159..248
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 303..325
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 510..545
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 575..596
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 372..484
FT /evidence="ECO:0000255"
FT COMPBIAS 178..196
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 206..248
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 416..836
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_034460"
FT VAR_SEQ 513..582
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_034461"
FT VAR_SEQ 723..836
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_034462"
FT VAR_SEQ 724..763
FT /note="FLKPKRICSQRVNSKSFKGEHEPTPGKKKLQAFMTYSSDP -> LASPFCCP
FT GLVHSPDTSKSSPTSGWQEAELGLENMKSQ (in isoform 4)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_034463"
FT VAR_SEQ 764..836
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.6"
FT /id="VSP_034464"
FT VARIANT 61
FT /note="S -> N (in dbSNP:rs1277207)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4"
FT /id="VAR_044198"
FT VARIANT 104
FT /note="A -> V (in dbSNP:rs17621411)"
FT /id="VAR_044199"
FT VARIANT 167
FT /note="E -> G (in dbSNP:rs17852793)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_044200"
FT VARIANT 255
FT /note="H -> Y (in dbSNP:rs9440631)"
FT /id="VAR_044201"
FT VARIANT 352
FT /note="L -> V (in dbSNP:rs11580913)"
FT /id="VAR_044202"
FT VARIANT 582
FT /note="G -> V (in dbSNP:rs12060255)"
FT /id="VAR_061565"
FT VARIANT 616
FT /note="N -> K (in dbSNP:rs7551421)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_044203"
FT VARIANT 654
FT /note="C -> Y (in dbSNP:rs7522157)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_044204"
FT CONFLICT 306
FT /note="T -> M (in Ref. 2; AL832216)"
FT /evidence="ECO:0000305"
FT CONFLICT 505
FT /note="T -> A (in Ref. 2; AL832216)"
FT /evidence="ECO:0000305"
FT CONFLICT 645
FT /note="P -> A (in Ref. 6; AA527539)"
FT /evidence="ECO:0000305"
FT CONFLICT 653
FT /note="F -> L (in Ref. 6; AA527539)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 836 AA; 92864 MW; 1EDD5871867234B5 CRC64;
MDEADFSEHT TYKQEDLPYD GDLSQIKIGN DYSFTSKKDG LEVLNQIIFI ADDPQEKAMH
SETCGNTAVT IPLGKITENA ANKKDEKEKQ CTAALHIPAN EGDASKSSIS DILLHHLSKE
PFLRGQGIDC ETLPEISNAD SFEEEAIIKS IISCYNKNSW PKEQTPELTD QLNPKRDGEN
SNKPGSATTT EENTSDLEGP VAAGDSSHQE NVNVLTKTKG PGDKQKSYQG QSPQKQQTEK
ANSGNTFKYG QGQVHYQLPD FSKIAPKVKI PKNKIINKPL AIAKQASFSS KSRDKPTLVQ
DSLETTPESN CVEKQHQEQK GKITEPSQQI QMEPIVHIHQ ELLTGIESEA SLSKLSPTSQ
KGTSSSSSYI FQKISQGKQM CQKLKEQTDQ LKTKVQEFSK RIKQDSPYHL QDKKLVLEKL
QGHLELLEQN FLATKDKHLT LQQQVHKHES TIVGDFDPER KVEGEIFKLE MLLEDVKEKM
DESKYTSAPS LPVSSPVTLD DLASTFSSLS NEIPKEHPGH PSGPRGSGGS EVTGTPQGGP
QEAPNEELCE LAPQTYLNGH YGDAAAQNKP DQVAMRLSSN SGEDPNGTPR RQDCAEMTAP
SPSCAFCRRL LEWKQNVEKK GHGRINCGRF SIVLHEKAPH SDSTPNSDTG HSFCSDSGTE
MQSNKCQDCG TKIPTSRRAC RKEPTKEFHY RYNTPGQNYS NHSKRGAFVQ PHSLDESKNS
SPSFLKPKRI CSQRVNSKSF KGEHEPTPGK KKLQAFMTYS SDPATPSPHF YSCRISGSKS
LCDFDSTEEI KSEILNSALD HALRTATILK ETTDQMIKTI AEDLAKAQRW RNRLKY
