Q495B1 (AKD1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ankyrin repeat and death domain-containing protein 1A

Gene names

Name:

ANKDD1A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	522 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Contains 11 ANK repeats. Contains 1 death domain.
Sequence caution	The sequence BAC05399.1 differs from that shown. Reason: Probable cloning artifact. The sequence BAC11532.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	signal transduction Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 5 (identifier: Q495B1-5)

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: Q495B1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     355-386: Missing.

Isoform 3 (identifier: Q495B1-6)

The sequence of this isoform differs from the canonical sequence as follows:
     13-41: LPLERQLHEAARQNNVGRMQELIGRRVNT → WDECASPVCLVRPLTNPLDLDKLRGQDPL
     42-522: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 1 (identifier: Q495B1-1)

The sequence of this isoform differs from the canonical sequence as follows:
     495-522: GWSTMARSQLTATSASRVQMILVPQPPE → ENIRKKANAAPSAPRRCTAM

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 522	522	Ankyrin repeat and death domain-containing protein 1A		PRO_0000287882
Regions
	Repeat	14 – 43	30	ANK 1
	Repeat	47 – 76	30	ANK 2
	Repeat	90 – 119	30	ANK 3
	Repeat	123 – 152	30	ANK 4
	Repeat	158 – 187	30	ANK 5
	Repeat	191 – 220	30	ANK 6
	Repeat	224 – 253	30	ANK 7
	Repeat	257 – 286	30	ANK 8
	Repeat	290 – 319	30	ANK 9
	Repeat	323 – 352	30	ANK 10
	Repeat	356 – 385	30	ANK 11
	Domain	413 – 501	89	Death
Natural variations
	Alternative sequence	13 – 41	29	LPLER…RRVNT → WDECASPVCLVRPLTNPLDL DKLRGQDPL in isoform 3.		VSP_038676
	Alternative sequence	42 – 522	481	Missing in isoform 3.		VSP_038677
	Alternative sequence	355 – 386	32	Missing in isoform 2.		VSP_038678
	Alternative sequence	495 – 522	28	GWSTM…PQPPE → ENIRKKANAAPSAPRRCTAM in isoform 1.		VSP_038675
	Natural variant	355	1	K → E. Ref.3 Corresponds to variant rs34988193 [ dbSNP | Ensembl ].		VAR_032358

Sequences

	Sequence		Length	Mass (Da)
	Isoform 5 [UniParc]. Last modified February 9, 2010. Version 2. Checksum: B0A26B4EE684A8B5	FASTA	522	57,550
	10 20 30 40 50 60 MQEELAWETD GLLPLERQLH EAARQNNVGR MQELIGRRVN TRARNHVGRV ALHWAAGAGH 70 80 90 100 110 120 EQAVRLLLEH EAAVDEEDAV GALTEARLCF GMNALLLSAW FGHLRILQIL VNSGAKIHCE 130 140 150 160 170 180 SKDGLTLLHC AAQKGHVPVL AFIMEDLEDV ALDHVDKLGR TAFHRAAEHG QLDALDFLVG 190 200 210 220 230 240 SGCDHNVKDK EGNTALHLAA GRGHMAVLQR LVDIGLDLEE QNAEGLTALH SAAGGSHPDC 250 260 270 280 290 300 VQLLLRAGST VNALTQKNLS CLHYAALSGS EDVSRVLIHA GGCANVVDHQ GASPLHLAVR 310 320 330 340 350 360 HNFPALVRLL INSDSDVNAV DNRQQTPLHL AAEHAWQDIA DMLLIAGVDL NLRDKQGKTA 370 380 390 400 410 420 LAVAVRSNHV SLVDMIIKAD RFYRWEKDHP SDPSGKSLSF KQDHRQETQQ LRSVLWRLAS 430 440 450 460 470 480 RYLQPREWKK LAYSWEFTEA HVDAIEQQWT GTRSYQEHGH RMLLIWLHGV ATAGENPSKA 490 500 510 520 LFEGLVAIGR RDLAGWSTMA RSQLTATSAS RVQMILVPQP PE
	Isoform 2 [UniParc]. Checksum: E2D045FB6FEDC233	FASTA	490	53,865
	10 20 30 40 50 60 MQEELAWETD GLLPLERQLH EAARQNNVGR MQELIGRRVN TRARNHVGRV ALHWAAGAGH 70 80 90 100 110 120 EQAVRLLLEH EAAVDEEDAV GALTEARLCF GMNALLLSAW FGHLRILQIL VNSGAKIHCE 130 140 150 160 170 180 SKDGLTLLHC AAQKGHVPVL AFIMEDLEDV ALDHVDKLGR TAFHRAAEHG QLDALDFLVG 190 200 210 220 230 240 SGCDHNVKDK EGNTALHLAA GRGHMAVLQR LVDIGLDLEE QNAEGLTALH SAAGGSHPDC 250 260 270 280 290 300 VQLLLRAGST VNALTQKNLS CLHYAALSGS EDVSRVLIHA GGCANVVDHQ GASPLHLAVR 310 320 330 340 350 360 HNFPALVRLL INSDSDVNAV DNRQQTPLHL AAEHAWQDIA DMLLIAGVDL NLRDKDHPSD 370 380 390 400 410 420 PSGKSLSFKQ DHRQETQQLR SVLWRLASRY LQPREWKKLA YSWEFTEAHV DAIEQQWTGT 430 440 450 460 470 480 RSYQEHGHRM LLIWLHGVAT AGENPSKALF EGLVAIGRRD LAGWSTMARS QLTATSASRV 490 QMILVPQPPE
	Isoform 3 [UniParc]. Checksum: 0BB1F50CE27655CF	FASTA	41	4,668
	10 20 30 40 MQEELAWETD GLWDECASPV CLVRPLTNPL DLDKLRGQDP L
	Isoform 1 [UniParc]. Checksum: 8ABB76F55F8C6A6F	FASTA	514	56,692
	10 20 30 40 50 60 MQEELAWETD GLLPLERQLH EAARQNNVGR MQELIGRRVN TRARNHVGRV ALHWAAGAGH 70 80 90 100 110 120 EQAVRLLLEH EAAVDEEDAV GALTEARLCF GMNALLLSAW FGHLRILQIL VNSGAKIHCE 130 140 150 160 170 180 SKDGLTLLHC AAQKGHVPVL AFIMEDLEDV ALDHVDKLGR TAFHRAAEHG QLDALDFLVG 190 200 210 220 230 240 SGCDHNVKDK EGNTALHLAA GRGHMAVLQR LVDIGLDLEE QNAEGLTALH SAAGGSHPDC 250 260 270 280 290 300 VQLLLRAGST VNALTQKNLS CLHYAALSGS EDVSRVLIHA GGCANVVDHQ GASPLHLAVR 310 320 330 340 350 360 HNFPALVRLL INSDSDVNAV DNRQQTPLHL AAEHAWQDIA DMLLIAGVDL NLRDKQGKTA 370 380 390 400 410 420 LAVAVRSNHV SLVDMIIKAD RFYRWEKDHP SDPSGKSLSF KQDHRQETQQ LRSVLWRLAS 430 440 450 460 470 480 RYLQPREWKK LAYSWEFTEA HVDAIEQQWT GTRSYQEHGH RMLLIWLHGV ATAGENPSKA 490 500 510 LFEGLVAIGR RDLAENIRKK ANAAPSAPRR CTAM

References

[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[2]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed: 16572171] [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] OF 92-522 (ISOFORMS 1 AND 2), VARIANT GLU-355.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK075298 mRNA. Translation: BAC11532.1. Sequence problems. AK098736 mRNA. Translation: BAC05399.1. Sequence problems. AC069368 Genomic DNA. No translation available. BC101273 mRNA. Translation: AAI01274.1. BC101274 mRNA. Translation: AAI01275.1. BC101275 mRNA. Translation: AAI01276.1.
IPI	IPI00420011. IPI00642138. IPI00746022. IPI00954963.
RefSeq	NP_874362.3. NM_182703.3.
UniGene	Hs.207157.
3D structure databases
HSSP	HSSP built from PDB template 1NFI based on UniProtKB P25963.
ProteinModelPortal	Q495B1.
SMR	Q495B1. Positions 15-500.
ModBase	Search...
Polymorphism databases
DMDM	288558803.
Proteomic databases
PRIDE	Q495B1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000395720; ENSP00000379070; ENSG00000166839.
GeneID	348094.
KEGG	hsa:348094.
UCSC	uc002anx.1. human. uc002any.2. human. uc002aoa.1. human. uc010bha.1. human.
Organism-specific databases
CTD	348094.
GeneCards	GC15P065204.
HGNC	HGNC:28002. ANKDD1A.
HPA	HPA040757.
neXtProt	NX_Q495B1.
PharmGKB	PA143485299.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00590000082925.
HOVERGEN	HBG100885.
OMA	EWKKLAY.
PhylomeDB	Q495B1.
Gene expression databases
ArrayExpress	Q495B1.
Bgee	Q495B1.
CleanEx	HS_ANKDD1A.
Genevestigator	Q495B1.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR000488. Death. IPR011029. DEATH-like. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit. G3DSA:1.10.533.10. DEATH_like. 1 hit.
Pfam	PF12796. Ank_2. 4 hits. PF00531. Death. 1 hit. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 10 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit. SSF47986. DEATH_like. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 8 hits. PS50017. DEATH_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	99340.

Entry information

Entry name

AKD1A_HUMAN

Accession

Primary (citable) accession number: Q495B1
Secondary accession number(s): Q495B2 , Q495B3, Q8N7A0, Q8NBS5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	February 9, 2010
Last modified:	January 25, 2012
This is version 57 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.