Reviewed, UniProtKB/Swiss-Prot Q495B1 (AKD1A_HUMAN)

Names and origin

Protein names

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

Gene names

Name:

ANKDD1A

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	423 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Sequence similarities

Contains 9 ANK repeats. Contains 1 death domain.

Ontologies

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

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q495B1-1)

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:
     264-295: Missing.
     404-423: ENIRKKANAAPSAPRRCTAM → GWSTMARSQLTATSASRVQMILVPQPPE

Isoform 3 (identifier: Q495B1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.
     166-181: KNLSCLHYAALSGSED → VARPSQDCGRLLAAEP
     182-423: Missing.

Isoform 4 (identifier: Q495B1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     166-181: KNLSCLHYAALSGSED → VARPSQDCGRLLAAEP
     182-423: Missing.

Isoform 5 (identifier: Q495B1-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQEELAWETD...LTEARLCFGM
     404-423: ENIRKKANAAPSAPRRCTAM → GWSTMARSQLTATSASRVQMILVPQPPE

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Potential
	Chain	25 – 423	399	Ankyrin repeat and death domain-containing protein 1A		PRO_0000287882
Regions
	Repeat	1 – 28	28	ANK 1
	Repeat	32 – 61	30	ANK 2
	Repeat	67 – 96	30	ANK 3
	Repeat	100 – 129	30	ANK 4
	Repeat	133 – 162	30	ANK 5
	Repeat	166 – 195	30	ANK 6
	Repeat	199 – 228	30	ANK 7
	Repeat	232 – 261	30	ANK 8
	Repeat	265 – 294	30	ANK 9
	Domain	322 – 410	89	Death
Natural variations
	Alternative sequence	1 – 52	52	Missing in isoform 3.		VSP_025618
	Alternative sequence	1	1	M → MQEELAWETDGLLPLERQLH EAARQNNVGRMQELIGRRVN TRARNHVGRVALHWAAGAGH EQAVRLLLEHEAAVDEEDAV GALTEARLCFGM in isoform 5.		VSP_037050
	Alternative sequence	166 – 181	16	KNLSC…SGSED → VARPSQDCGRLLAAEP in isoform 3 and isoform 4.		VSP_025619
	Alternative sequence	182 – 423	242	Missing in isoform 3 and isoform 4.		VSP_025620
	Alternative sequence	264 – 295	32	Missing in isoform 2.		VSP_025621
	Alternative sequence	404 – 423	20	ENIRK…RCTAM → GWSTMARSQLTATSASRVQM ILVPQPPE in isoform 2 and isoform 5.		VSP_025622
	Natural variant	264	1	K → E: dbSNP rs34988193. Ref.3		VAR_032358

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 13, 2005. Version 1. Checksum: 4A01DDC3D5274D72	FASTA	423	46,551
	10 20 30 40 50 60 MNALLLSAWF GHLRILQILV NSGAKIHCES KDGLTLLHCA AQKGHVPVLA FIMEDLEDVA 70 80 90 100 110 120 LDHVDKLGRT AFHRAAEHGQ LDALDFLVGS GCDHNVKDKE GNTALHLAAG RGHMAVLQRL 130 140 150 160 170 180 VDIGLDLEEQ NAEGLTALHS AAGGSHPDCV QLLLRAGSTV NALTQKNLSC LHYAALSGSE 190 200 210 220 230 240 DVSRVLIHAG GCANVVDHQG ASPLHLAVRH NFPALVRLLI NSDSDVNAVD NRQQTPLHLA 250 260 270 280 290 300 AEHAWQDIAD MLLIAGVDLN LRDKQGKTAL AVAVRSNHVS LVDMIIKADR FYRWEKDHPS 310 320 330 340 350 360 DPSGKSLSFK QDHRQETQQL RSVLWRLASR YLQPREWKKL AYSWEFTEAH VDAIEQQWTG 370 380 390 400 410 420 TRSYQEHGHR MLLIWLHGVA TAGENPSKAL FEGLVAIGRR DLAENIRKKA NAAPSAPRRC TAM
	Isoform 2. Checksum: 758E8AC2B8358EA7	FASTA	399	43,724
	10 20 30 40 50 60 MNALLLSAWF GHLRILQILV NSGAKIHCES KDGLTLLHCA AQKGHVPVLA FIMEDLEDVA 70 80 90 100 110 120 LDHVDKLGRT AFHRAAEHGQ LDALDFLVGS GCDHNVKDKE GNTALHLAAG RGHMAVLQRL 130 140 150 160 170 180 VDIGLDLEEQ NAEGLTALHS AAGGSHPDCV QLLLRAGSTV NALTQKNLSC LHYAALSGSE 190 200 210 220 230 240 DVSRVLIHAG GCANVVDHQG ASPLHLAVRH NFPALVRLLI NSDSDVNAVD NRQQTPLHLA 250 260 270 280 290 300 AEHAWQDIAD MLLIAGVDLN LRDKDHPSDP SGKSLSFKQD HRQETQQLRS VLWRLASRYL 310 320 330 340 350 360 QPREWKKLAY SWEFTEAHVD AIEQQWTGTR SYQEHGHRML LIWLHGVATA GENPSKALFE 370 380 390 GLVAIGRRDL AGWSTMARSQ LTATSASRVQ MILVPQPPE
	Isoform 3. Checksum: 1067B1CF31D45BFF	FASTA	129	13,620
	10 20 30 40 50 60 MEDLEDVALD HVDKLGRTAF HRAAEHGQLD ALDFLVGSGC DHNVKDKEGN TALHLAAGRG 70 80 90 100 110 120 HMAVLQRLVD IGLDLEEQNA EGLTALHSAA GGSHPDCVQL LLRAGSTVNA LTQVARPSQD CGRLLAAEP
	Isoform 4. Checksum: 51CC70CD313E7E4B	FASTA	181	19,252
	10 20 30 40 50 60 MNALLLSAWF GHLRILQILV NSGAKIHCES KDGLTLLHCA AQKGHVPVLA FIMEDLEDVA 70 80 90 100 110 120 LDHVDKLGRT AFHRAAEHGQ LDALDFLVGS GCDHNVKDKE GNTALHLAAG RGHMAVLQRL 130 140 150 160 170 180 VDIGLDLEEQ NAEGLTALHS AAGGSHPDCV QLLLRAGSTV NALTQVARPS QDCGRLLAAE P
	Isoform 5. 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

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] (ISOFORMS 3 AND 4). 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] (ISOFORMS 1 AND 2), VARIANT GLU-264.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK075298 mRNA. Translation: BAC11532.1. AK098736 mRNA. Translation: BAC05399.1. AC069368 Genomic DNA. No translation available. AC103691 Genomic DNA. No translation available. BC101273 mRNA. Translation: AAI01274.1. BC101274 mRNA. Translation: AAI01275.1. BC101275 mRNA. Translation: AAI01276.1.
IPI	IPI00420011. IPI00642138. IPI00746022. IPI00845243. IPI00845290.
RefSeq	NP_874362.3.
UniGene	Hs.207157
3D structure databases
HSSP	HSSP built from PDB template 1NFI based on UniProtKB P25963.
ModBase	Search...
Proteomic databases
PRIDE	Q495B1.
Genome annotation databases
Ensembl	ENST00000395720; ENSP00000379070; ENSG00000166839; Homo sapiens. [Genome view]
GeneID	348094.
KEGG	hsa:348094.
UCSC	uc002anx.1. human. uc002any.2. human. uc002aoa.1. human. uc010bha.1. human.
Organism-specific databases
CTD	348094.
GeneCards	GC15P062995.
HGNC	HGNC:28002. ANKDD1A.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q495B1.
OMA	IWLHGVA
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.
Pfam	PF00023. Ank. 9 hits. PF00531. Death. 1 hit. [Graphical view]
SMART	SM00248. ANK. 9 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 6 hits. PS50017. DEATH_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	September 13, 2005
Last modified:	November 24, 2009
This is version 39 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.