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Protein

Protein AKNAD1

Gene

AKNAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein AKNAD1
Gene namesi
Name:AKNAD1
Synonyms:C1orf62
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:28398. AKNAD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165750356.

Polymorphism and mutation databases

BioMutaiAKNAD1.
DMDMi317373483.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 836836Protein AKNAD1PRO_0000342470Add
BLAST

Proteomic databases

EPDiQ5T1N1.
PaxDbiQ5T1N1.
PRIDEiQ5T1N1.

PTM databases

iPTMnetiQ5T1N1.
PhosphoSiteiQ5T1N1.

Expressioni

Gene expression databases

BgeeiQ5T1N1.
CleanExiHS_C1orf62.
ExpressionAtlasiQ5T1N1. baseline and differential.
GenevisibleiQ5T1N1. HS.

Organism-specific databases

HPAiHPA030270.
HPA030271.
HPA030272.

Interactioni

Protein-protein interaction databases

BioGridi129027. 4 interactions.
IntActiQ5T1N1. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ5T1N1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili372 – 484113Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the AKNA family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGMC. Eukaryota.
ENOG41129E6. LUCA.
GeneTreeiENSGT00390000006474.
HOGENOMiHOG000139637.
HOVERGENiHBG107136.
InParanoidiQ5T1N1.
OMAiYRYNTPG.
OrthoDBiEOG70CR61.
PhylomeDBiQ5T1N1.
TreeFamiTF335786.

Family and domain databases

InterProiIPR022150. TF_AT-hook.
[Graphical view]
PfamiPF12443. AKNA. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T1N1-1) [UniParc]FASTAAdd to basket

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
MDEADFSEHT TYKQEDLPYD GDLSQIKIGN DYSFTSKKDG LEVLNQIIFI
60 70 80 90 100
ADDPQEKAMH SETCGNTAVT IPLGKITENA ANKKDEKEKQ CTAALHIPAN
110 120 130 140 150
EGDASKSSIS DILLHHLSKE PFLRGQGIDC ETLPEISNAD SFEEEAIIKS
160 170 180 190 200
IISCYNKNSW PKEQTPELTD QLNPKRDGEN SNKPGSATTT EENTSDLEGP
210 220 230 240 250
VAAGDSSHQE NVNVLTKTKG PGDKQKSYQG QSPQKQQTEK ANSGNTFKYG
260 270 280 290 300
QGQVHYQLPD FSKIAPKVKI PKNKIINKPL AIAKQASFSS KSRDKPTLVQ
310 320 330 340 350
DSLETTPESN CVEKQHQEQK GKITEPSQQI QMEPIVHIHQ ELLTGIESEA
360 370 380 390 400
SLSKLSPTSQ KGTSSSSSYI FQKISQGKQM CQKLKEQTDQ LKTKVQEFSK
410 420 430 440 450
RIKQDSPYHL QDKKLVLEKL QGHLELLEQN FLATKDKHLT LQQQVHKHES
460 470 480 490 500
TIVGDFDPER KVEGEIFKLE MLLEDVKEKM DESKYTSAPS LPVSSPVTLD
510 520 530 540 550
DLASTFSSLS NEIPKEHPGH PSGPRGSGGS EVTGTPQGGP QEAPNEELCE
560 570 580 590 600
LAPQTYLNGH YGDAAAQNKP DQVAMRLSSN SGEDPNGTPR RQDCAEMTAP
610 620 630 640 650
SPSCAFCRRL LEWKQNVEKK GHGRINCGRF SIVLHEKAPH SDSTPNSDTG
660 670 680 690 700
HSFCSDSGTE MQSNKCQDCG TKIPTSRRAC RKEPTKEFHY RYNTPGQNYS
710 720 730 740 750
NHSKRGAFVQ PHSLDESKNS SPSFLKPKRI CSQRVNSKSF KGEHEPTPGK
760 770 780 790 800
KKLQAFMTYS SDPATPSPHF YSCRISGSKS LCDFDSTEEI KSEILNSALD
810 820 830
HALRTATILK ETTDQMIKTI AEDLAKAQRW RNRLKY
Length:836
Mass (Da):92,864
Last modified:January 11, 2011 - v3
Checksum:i1EDD5871867234B5
GO
Isoform 2 (identifier: Q5T1N1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     416-836: Missing.

Note: No experimental confirmation available.
Show »
Length:415
Mass (Da):46,064
Checksum:iDA2E8DE316EF0FAF
GO
Isoform 3 (identifier: Q5T1N1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     513-582: Missing.
     723-836: Missing.

Note: No experimental confirmation available.
Show »
Length:652
Mass (Da):72,739
Checksum:i25E69FB84DB2590C
GO
Isoform 4 (identifier: Q5T1N1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     724-763: FLKPKRICSQ...QAFMTYSSDP → LASPFCCPGL...ELGLENMKSQ
     764-836: Missing.

Note: No experimental confirmation available.
Show »
Length:761
Mass (Da):83,989
Checksum:i405E6612A7CB5B79
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti306 – 3061T → M in AL832216 (PubMed:17974005).Curated
Sequence conflicti505 – 5051T → A in AL832216 (PubMed:17974005).Curated
Sequence conflicti645 – 6451P → A in AA527539 (Ref. 6) Curated
Sequence conflicti653 – 6531F → L in AA527539 (Ref. 6) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611S → N.3 Publications
Corresponds to variant rs1277207 [ dbSNP | Ensembl ].
VAR_044198
Natural varianti104 – 1041A → V.
Corresponds to variant rs17621411 [ dbSNP | Ensembl ].
VAR_044199
Natural varianti167 – 1671E → G.1 Publication
Corresponds to variant rs17852793 [ dbSNP | Ensembl ].
VAR_044200
Natural varianti255 – 2551H → Y.
Corresponds to variant rs9440631 [ dbSNP | Ensembl ].
VAR_044201
Natural varianti352 – 3521L → V.
Corresponds to variant rs11580913 [ dbSNP | Ensembl ].
VAR_044202
Natural varianti582 – 5821G → V.
Corresponds to variant rs12060255 [ dbSNP | Ensembl ].
VAR_061565
Natural varianti616 – 6161N → K.1 Publication
Corresponds to variant rs7551421 [ dbSNP | Ensembl ].
VAR_044203
Natural varianti654 – 6541C → Y.1 Publication
Corresponds to variant rs7522157 [ dbSNP | Ensembl ].
VAR_044204

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei416 – 836421Missing in isoform 2. 1 PublicationVSP_034460Add
BLAST
Alternative sequencei513 – 58270Missing in isoform 3. 1 PublicationVSP_034461Add
BLAST
Alternative sequencei723 – 836114Missing in isoform 3. 1 PublicationVSP_034462Add
BLAST
Alternative sequencei724 – 76340FLKPK…YSSDP → LASPFCCPGLVHSPDTSKSS PTSGWQEAELGLENMKSQ in isoform 4. 1 PublicationVSP_034463Add
BLAST
Alternative sequencei764 – 83673Missing in isoform 4. 1 PublicationVSP_034464Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095517 mRNA. Translation: BAC04565.1.
AL832216 mRNA. No translation available.
AL449266 Genomic DNA. Translation: CAI14354.1.
AL449266 Genomic DNA. Translation: CAI14357.1.
CH471122 Genomic DNA. Translation: EAW56334.1.
CH471122 Genomic DNA. Translation: EAW56335.1.
BC030647 mRNA. Translation: AAH30647.1.
BC150642 mRNA. Translation: AAI50643.1.
AA527539 mRNA. No translation available.
CCDSiCCDS791.2. [Q5T1N1-1]
RefSeqiNP_689976.2. NM_152763.4. [Q5T1N1-1]
UniGeneiHs.729441.
Hs.744647.

Genome annotation databases

EnsembliENST00000369995; ENSP00000359012; ENSG00000162641. [Q5T1N1-4]
ENST00000370001; ENSP00000359018; ENSG00000162641. [Q5T1N1-1]
ENST00000472781; ENSP00000432262; ENSG00000162641. [Q5T1N1-2]
ENST00000474186; ENSP00000436835; ENSG00000162641. [Q5T1N1-3]
GeneIDi254268.
KEGGihsa:254268.
UCSCiuc001dwa.5. human. [Q5T1N1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095517 mRNA. Translation: BAC04565.1.
AL832216 mRNA. No translation available.
AL449266 Genomic DNA. Translation: CAI14354.1.
AL449266 Genomic DNA. Translation: CAI14357.1.
CH471122 Genomic DNA. Translation: EAW56334.1.
CH471122 Genomic DNA. Translation: EAW56335.1.
BC030647 mRNA. Translation: AAH30647.1.
BC150642 mRNA. Translation: AAI50643.1.
AA527539 mRNA. No translation available.
CCDSiCCDS791.2. [Q5T1N1-1]
RefSeqiNP_689976.2. NM_152763.4. [Q5T1N1-1]
UniGeneiHs.729441.
Hs.744647.

3D structure databases

ProteinModelPortaliQ5T1N1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129027. 4 interactions.
IntActiQ5T1N1. 1 interaction.

PTM databases

iPTMnetiQ5T1N1.
PhosphoSiteiQ5T1N1.

Polymorphism and mutation databases

BioMutaiAKNAD1.
DMDMi317373483.

Proteomic databases

EPDiQ5T1N1.
PaxDbiQ5T1N1.
PRIDEiQ5T1N1.

Protocols and materials databases

DNASUi254268.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369995; ENSP00000359012; ENSG00000162641. [Q5T1N1-4]
ENST00000370001; ENSP00000359018; ENSG00000162641. [Q5T1N1-1]
ENST00000472781; ENSP00000432262; ENSG00000162641. [Q5T1N1-2]
ENST00000474186; ENSP00000436835; ENSG00000162641. [Q5T1N1-3]
GeneIDi254268.
KEGGihsa:254268.
UCSCiuc001dwa.5. human. [Q5T1N1-1]

Organism-specific databases

CTDi254268.
GeneCardsiAKNAD1.
H-InvDBHIX0199905.
HIX0200229.
HGNCiHGNC:28398. AKNAD1.
HPAiHPA030270.
HPA030271.
HPA030272.
neXtProtiNX_Q5T1N1.
PharmGKBiPA165750356.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGMC. Eukaryota.
ENOG41129E6. LUCA.
GeneTreeiENSGT00390000006474.
HOGENOMiHOG000139637.
HOVERGENiHBG107136.
InParanoidiQ5T1N1.
OMAiYRYNTPG.
OrthoDBiEOG70CR61.
PhylomeDBiQ5T1N1.
TreeFamiTF335786.

Miscellaneous databases

ChiTaRSiAKNAD1. human.
GenomeRNAii254268.
PROiQ5T1N1.

Gene expression databases

BgeeiQ5T1N1.
CleanExiHS_C1orf62.
ExpressionAtlasiQ5T1N1. baseline and differential.
GenevisibleiQ5T1N1. HS.

Family and domain databases

InterProiIPR022150. TF_AT-hook.
[Graphical view]
PfamiPF12443. AKNA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ASN-61.
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASN-61 AND LYS-616.
    Tissue: Testis.
  3. "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].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-61.
  5. "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 1 AND 2), VARIANT GLY-167.
    Tissue: Testis.
  6. The Cancer Genome Anatomy Project (CGAP) at the National Cancer Institute
    Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 636-836 (ISOFORM 4), VARIANT TYR-654.
    Tissue: Colon.

Entry informationi

Entry nameiAKND1_HUMAN
AccessioniPrimary (citable) accession number: Q5T1N1
Secondary accession number(s): B9EK62
, Q5T1N0, Q8N990, Q8NCN9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: January 11, 2011
Last modified: June 8, 2016
This is version 84 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

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.