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Protein

Cytoplasmic dynein 2 heavy chain 1

Gene

DYNC2H1

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

Functioni

May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi145 – 152ATPSequence analysis8
Nucleotide bindingi1689 – 1696ATPSequence analysis8
Nucleotide bindingi1979 – 1986ATPSequence analysis8
Nucleotide bindingi2291 – 2298ATPSequence analysis8
Nucleotide bindingi2655 – 2662ATPSequence analysis8

GO - Molecular functioni

  • ATPase activity Source: InterPro
  • ATP binding Source: UniProtKB-KW
  • microtubule motor activity Source: InterPro
  • motor activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Motor protein

Keywords - Biological processi

Cilium biogenesis/degradation

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-2132295. MHC class II antigen presentation.
R-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620924. Intraflagellar transport.
R-HSA-6807878. COPI-mediated anterograde transport.
R-HSA-6811436. COPI-independent Golgi-to-ER retrograde traffic.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytoplasmic dynein 2 heavy chain 1
Alternative name(s):
Cytoplasmic dynein 2 heavy chain
Dynein cytoplasmic heavy chain 2
Dynein heavy chain 11
Short name:
hDHC11
Dynein heavy chain isotype 1B
Gene namesi
Name:DYNC2H1
Synonyms:DHC1B, DHC2, DNCH2, DYH1B, KIAA1997
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:2962. DYNC2H1.

Subcellular locationi

  • Cytoplasmcytoskeletoncilium axoneme By similarity
  • Cell membrane By similarity; Peripheral membrane protein By similarity
  • Cytoplasm By similarity

  • Note: Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum (PubMed:8666668).By similarity1 Publication

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • axoneme Source: Ensembl
  • ciliary tip Source: Reactome
  • cytosol Source: Reactome
  • dynein complex Source: UniProtKB-KW
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • microtubule Source: UniProtKB
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Membrane, Microtubule

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).1 Publication
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:613091
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063242209F → I in SRTD3. 1 PublicationCorresponds to variant rs771511132dbSNPEnsembl.1
Natural variantiVAR_069591330R → C in SRTD3. 2 PublicationsCorresponds to variant rs397514637dbSNPEnsembl.1
Natural variantiVAR_069592338R → G in SRTD3. 1 Publication1
Natural variantiVAR_069593430R → C in SRTD3. 1 PublicationCorresponds to variant rs374073337dbSNPEnsembl.1
Natural variantiVAR_069594495K → R in SRTD3. 1 Publication1
Natural variantiVAR_063243587R → C in SRTD3. 1 PublicationCorresponds to variant rs137853030dbSNPEnsembl.1
Natural variantiVAR_069595871L → P in SRTD3. 1 Publication1
Natural variantiVAR_0695961228L → I in SRTD3. 1 PublicationCorresponds to variant rs189806840dbSNPEnsembl.1
Natural variantiVAR_0632441240I → T in SRTD3. 2 PublicationsCorresponds to variant rs137853028dbSNPEnsembl.1
Natural variantiVAR_0695971379M → V in SRTD3. 1 Publication1
Natural variantiVAR_0695981423R → C in SRTD3. 1 PublicationCorresponds to variant rs745870321dbSNPEnsembl.1
Natural variantiVAR_0695991442G → D in SRTD3. 1 PublicationCorresponds to variant rs763571787dbSNPEnsembl.1
Natural variantiVAR_0632451537Q → R in SRTD3. Corresponds to variant rs137853033dbSNPEnsembl.1
Natural variantiVAR_0632461987T → A in SRTD3. 1 PublicationCorresponds to variant rs137853035dbSNPEnsembl.1
Natural variantiVAR_0696001991M → K in SRTD3. 1 Publication1
Natural variantiVAR_0632471991M → L in SRTD3. 1 PublicationCorresponds to variant rs137853025dbSNPEnsembl.1
Natural variantiVAR_0632482205R → H in SRTD3. 1 PublicationCorresponds to variant rs137853031dbSNPEnsembl.1
Natural variantiVAR_0696012227M → V in SRTD3. 1 PublicationCorresponds to variant rs750249486dbSNPEnsembl.1
Natural variantiVAR_0696022304A → T in SRTD3. 1 PublicationCorresponds to variant rs747348765dbSNPEnsembl.1
Natural variantiVAR_0696032362N → S in SRTD3. 1 Publication1
Natural variantiVAR_0632492461G → V in SRTD3. 1 PublicationCorresponds to variant rs137853034dbSNPEnsembl.1
Natural variantiVAR_0696042481R → Q in SRTD3. 1 PublicationCorresponds to variant rs781326398dbSNPEnsembl.1
Natural variantiVAR_0696052496P → S in SRTD3. 1 PublicationCorresponds to variant rs397514636dbSNPEnsembl.1
Natural variantiVAR_0696062532R → W in SRTD3. 1 Publication1
Natural variantiVAR_0696072555V → M in SRTD3. 1 Publication1
Natural variantiVAR_0696082573Y → C in SRTD3. 1 Publication1
Natural variantiVAR_0696092640I → T in SRTD3. 1 Publication1
Natural variantiVAR_0696102662R → Q in SRTD3. 1 PublicationCorresponds to variant rs397514635dbSNPEnsembl.1
Natural variantiVAR_0696112819I → M in SRTD3. 1 Publication1
Natural variantiVAR_0632503015D → G in SRTD3. 2 PublicationsCorresponds to variant rs137853027dbSNPEnsembl.1
Natural variantiVAR_0696123381P → L in SRTD3. 1 PublicationCorresponds to variant rs368631447dbSNPEnsembl.1
Natural variantiVAR_0632513762L → V in SRTD3. 1 Publication1
Natural variantiVAR_0696133806R → C in SRTD3. 1 PublicationCorresponds to variant rs754753584dbSNPEnsembl.1
Natural variantiVAR_0696143847W → G in SRTD3. 1 PublicationCorresponds to variant rs752554582dbSNPEnsembl.1
Natural variantiVAR_0696164232L → R in SRTD3. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi79659.
MalaCardsiDYNC2H1.
MIMi613091. phenotype.
OpenTargetsiENSG00000187240.
Orphaneti474. Jeune syndrome.
93269. Short rib-polydactyly syndrome, Majewski type.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.

Polymorphism and mutation databases

BioMutaiDYNC2H1.
DMDMi311033479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003187431 – 4307Cytoplasmic dynein 2 heavy chain 1Add BLAST4307

Proteomic databases

EPDiQ8NCM8.
MaxQBiQ8NCM8.
PaxDbiQ8NCM8.
PeptideAtlasiQ8NCM8.
PRIDEiQ8NCM8.

PTM databases

iPTMnetiQ8NCM8.
PhosphoSitePlusiQ8NCM8.

Expressioni

Gene expression databases

BgeeiENSG00000187240.
ExpressionAtlasiQ8NCM8. baseline and differential.
GenevisibleiQ8NCM8. HS.

Organism-specific databases

HPAiHPA039015.
HPA039016.

Interactioni

Subunit structurei

The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.By similarity

Protein-protein interaction databases

BioGridi122785. 27 interactors.
IntActiQ8NCM8. 19 interactors.
MINTiMINT-8188622.
STRINGi9606.ENSP00000381167.

Structurei

Secondary structure

14307
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1257 – 1273Combined sources17
Beta strandi1278 – 1281Combined sources4
Beta strandi1289 – 1292Combined sources4
Helixi1295 – 1314Combined sources20
Helixi1316 – 1321Combined sources6
Helixi1322 – 1358Combined sources37
Helixi1362 – 1384Combined sources23
Helixi1389 – 1392Combined sources4
Helixi1397 – 1425Combined sources29
Helixi1427 – 1431Combined sources5
Helixi1434 – 1442Combined sources9
Helixi1447 – 1454Combined sources8
Turni1455 – 1457Combined sources3
Beta strandi1458 – 1460Combined sources3
Beta strandi1462 – 1464Combined sources3
Beta strandi1475 – 1477Combined sources3
Beta strandi1483 – 1485Combined sources3
Helixi1496 – 1523Combined sources28
Beta strandi1524 – 1526Combined sources3
Turni1531 – 1533Combined sources3
Helixi1536 – 1557Combined sources22
Helixi1561 – 1580Combined sources20
Beta strandi1583 – 1586Combined sources4
Helixi1593 – 1616Combined sources24
Helixi1624 – 1628Combined sources5
Beta strandi1631 – 1634Combined sources4
Beta strandi1640 – 1644Combined sources5
Beta strandi1647 – 1650Combined sources4
Helixi1666 – 1681Combined sources16
Beta strandi1684 – 1688Combined sources5
Helixi1695 – 1705Combined sources11
Beta strandi1710 – 1714Combined sources5
Helixi1721 – 1734Combined sources14
Beta strandi1737 – 1742Combined sources6
Helixi1748 – 1767Combined sources20
Beta strandi1770 – 1774Combined sources5
Beta strandi1777 – 1780Combined sources4
Beta strandi1786 – 1791Combined sources6
Turni1796 – 1798Combined sources3
Helixi1806 – 1809Combined sources4
Beta strandi1812 – 1816Combined sources5
Helixi1823 – 1833Combined sources11
Helixi1838 – 1855Combined sources18
Helixi1866 – 1886Combined sources21
Helixi1891 – 1906Combined sources16
Turni1907 – 1909Combined sources3
Helixi1912 – 1925Combined sources14
Turni1927 – 1929Combined sources3
Helixi1938 – 1950Combined sources13
Helixi1956 – 1971Combined sources16
Beta strandi1973 – 1978Combined sources6
Helixi1985 – 1999Combined sources15
Beta strandi2004 – 2008Combined sources5
Turni2010 – 2012Combined sources3
Helixi2015 – 2019Combined sources5
Beta strandi2021 – 2023Combined sources3
Turni2024 – 2027Combined sources4
Beta strandi2028 – 2030Combined sources3
Helixi2033 – 2043Combined sources11
Beta strandi2050 – 2056Combined sources7
Helixi2060 – 2063Combined sources4
Helixi2064 – 2066Combined sources3
Helixi2067 – 2070Combined sources4
Beta strandi2071 – 2073Combined sources3
Beta strandi2090 – 2097Combined sources8
Helixi2104 – 2109Combined sources6
Beta strandi2110 – 2114Combined sources5
Turni2117 – 2119Combined sources3
Helixi2122 – 2132Combined sources11
Helixi2138 – 2159Combined sources22
Helixi2168 – 2177Combined sources10
Helixi2185 – 2197Combined sources13
Helixi2202 – 2215Combined sources14
Beta strandi2216 – 2218Combined sources3
Helixi2226 – 2228Combined sources3
Turni2233 – 2235Combined sources3
Turni2251 – 2254Combined sources4
Beta strandi2256 – 2259Combined sources4
Helixi2266 – 2279Combined sources14
Helixi2281 – 2283Combined sources3
Beta strandi2287 – 2290Combined sources4
Helixi2297 – 2307Combined sources11
Beta strandi2312 – 2316Combined sources5
Helixi2324 – 2332Combined sources9
Beta strandi2341 – 2343Combined sources3
Beta strandi2348 – 2350Combined sources3
Beta strandi2352 – 2359Combined sources8
Helixi2373 – 2384Combined sources12
Beta strandi2385 – 2388Combined sources4
Beta strandi2390 – 2392Combined sources3
Beta strandi2394 – 2397Combined sources4
Beta strandi2401 – 2406Combined sources6
Helixi2419 – 2422Combined sources4
Beta strandi2425 – 2429Combined sources5
Helixi2435 – 2452Combined sources18
Beta strandi2455 – 2461Combined sources7
Helixi2463 – 2483Combined sources21
Turni2486 – 2488Combined sources3
Helixi2496 – 2504Combined sources9
Helixi2505 – 2508Combined sources4
Helixi2520 – 2534Combined sources15
Turni2535 – 2538Combined sources4
Helixi2542 – 2559Combined sources18
Beta strandi2560 – 2562Combined sources3
Beta strandi2571 – 2577Combined sources7
Helixi2579 – 2581Combined sources3
Beta strandi2599 – 2603Combined sources5
Helixi2604 – 2621Combined sources18
Helixi2631 – 2645Combined sources15
Beta strandi2651 – 2654Combined sources4
Helixi2661 – 2672Combined sources12
Beta strandi2675 – 2677Combined sources3
Helixi2687 – 2702Combined sources16
Beta strandi2708 – 2713Combined sources6
Helixi2714 – 2716Combined sources3
Helixi2721 – 2732Combined sources12
Turni2736 – 2738Combined sources3
Helixi2741 – 2758Combined sources18
Helixi2764 – 2775Combined sources12
Beta strandi2776 – 2782Combined sources7
Beta strandi2784 – 2786Combined sources3
Helixi2789 – 2795Combined sources7
Helixi2798 – 2802Combined sources5
Beta strandi2803 – 2807Combined sources5
Helixi2813 – 2825Combined sources13
Helixi2849 – 2862Combined sources14
Turni2863 – 2865Combined sources3
Helixi2869 – 2994Combined sources126
Helixi2998 – 3004Combined sources7
Helixi3011 – 3023Combined sources13
Helixi3031 – 3038Combined sources8
Helixi3043 – 3046Combined sources4
Turni3047 – 3049Combined sources3
Helixi3057 – 3070Combined sources14
Turni3071 – 3073Combined sources3
Helixi3076 – 3080Combined sources5
Turni3084 – 3087Combined sources4
Helixi3088 – 3197Combined sources110
Helixi3200 – 3214Combined sources15
Helixi3219 – 3233Combined sources15
Helixi3240 – 3244Combined sources5
Helixi3247 – 3255Combined sources9
Helixi3262 – 3270Combined sources9
Beta strandi3275 – 3281Combined sources7
Helixi3286 – 3295Combined sources10
Beta strandi3301 – 3303Combined sources3
Helixi3310 – 3320Combined sources11
Beta strandi3324 – 3327Combined sources4
Helixi3334 – 3336Combined sources3
Helixi3337 – 3340Combined sources4
Beta strandi3344 – 3347Combined sources4
Beta strandi3350 – 3355Combined sources6
Beta strandi3358 – 3362Combined sources5
Beta strandi3370 – 3375Combined sources6
Helixi3381 – 3384Combined sources4
Beta strandi3387 – 3391Combined sources5
Helixi3396 – 3411Combined sources16
Helixi3413 – 3446Combined sources34
Beta strandi3447 – 3449Combined sources3
Turni3451 – 3453Combined sources3
Helixi3455 – 3490Combined sources36
Helixi3493 – 3512Combined sources20
Helixi3520 – 3532Combined sources13
Helixi3540 – 3562Combined sources23
Helixi3565 – 3579Combined sources15
Beta strandi3582 – 3584Combined sources3
Helixi3588 – 3593Combined sources6
Beta strandi3616 – 3618Combined sources3
Helixi3620 – 3632Combined sources13
Helixi3634 – 3640Combined sources7
Turni3641 – 3644Combined sources4
Helixi3647 – 3653Combined sources7
Helixi3658 – 3660Combined sources3
Helixi3663 – 3668Combined sources6
Helixi3673 – 3681Combined sources9
Helixi3683 – 3698Combined sources16
Helixi3710 – 3714Combined sources5
Beta strandi3723 – 3726Combined sources4
Helixi3734 – 3744Combined sources11
Beta strandi3751 – 3754Combined sources4
Helixi3759 – 3773Combined sources15
Beta strandi3776 – 3780Combined sources5
Helixi3782 – 3784Combined sources3
Turni3786 – 3788Combined sources3
Helixi3789 – 3798Combined sources10
Beta strandi3806 – 3811Combined sources6
Helixi3819 – 3823Combined sources5
Beta strandi3824 – 3829Combined sources6
Helixi3836 – 3846Combined sources11
Helixi3849 – 3852Combined sources4
Turni3855 – 3860Combined sources6
Helixi3861 – 3877Combined sources17
Turni3881 – 3884Combined sources4
Helixi3893 – 3908Combined sources16
Beta strandi3909 – 3911Combined sources3
Helixi3916 – 3925Combined sources10
Turni3928 – 3930Combined sources3
Helixi3934 – 3948Combined sources15
Turni3967 – 3969Combined sources3
Helixi3977 – 3986Combined sources10
Helixi3993 – 3996Combined sources4
Helixi4001 – 4020Combined sources20
Helixi4031 – 4036Combined sources6
Helixi4041 – 4051Combined sources11
Helixi4055 – 4059Combined sources5
Helixi4071 – 4102Combined sources32
Helixi4109 – 4120Combined sources12
Helixi4125 – 4130Combined sources6
Helixi4137 – 4159Combined sources23
Turni4163 – 4165Combined sources3
Helixi4170 – 4172Combined sources3
Helixi4176 – 4191Combined sources16
Helixi4195 – 4197Combined sources3
Beta strandi4198 – 4202Combined sources5
Beta strandi4204 – 4206Combined sources3
Beta strandi4212 – 4217Combined sources6
Beta strandi4221 – 4228Combined sources8
Beta strandi4231 – 4233Combined sources3
Beta strandi4237 – 4239Combined sources3
Beta strandi4241 – 4244Combined sources4
Beta strandi4248 – 4254Combined sources7
Turni4263 – 4265Combined sources3
Beta strandi4266 – 4276Combined sources11
Beta strandi4279 – 4287Combined sources9
Helixi4292 – 4298Combined sources7
Beta strandi4301 – 4303Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RH7X-ray3.41A1091-4307[»]
ProteinModelPortaliQ8NCM8.
SMRiQ8NCM8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 1650StemBy similarityAdd BLAST1650
Regioni1651 – 1875AAA 1By similarityAdd BLAST225
Regioni1938 – 2161AAA 2By similarityAdd BLAST224
Regioni2251 – 2505AAA 3By similarityAdd BLAST255
Regioni2617 – 2863AAA 4By similarityAdd BLAST247
Regioni2881 – 3169StalkBy similarityAdd BLAST289
Regioni3244 – 3473AAA 5By similarityAdd BLAST230
Regioni3690 – 3905AAA 6By similarityAdd BLAST216

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1074 – 1103Sequence analysisAdd BLAST30
Coiled coili2897 – 2982Sequence analysisAdd BLAST86
Coiled coili3109 – 3200Sequence analysisAdd BLAST92
Coiled coili3408 – 3442Sequence analysisAdd BLAST35

Sequence similaritiesi

Belongs to the dynein heavy chain family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOVERGENiHBG107832.
InParanoidiQ8NCM8.
KOiK10414.
OMAiLFMKNLD.
OrthoDBiEOG091G0313.
PhylomeDBiQ8NCM8.
TreeFamiTF315251.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013594. Dynein_heavy_dom-1.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PfamiPF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08385. DHC_N1. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 3 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NCM8-1) [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
MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML
60 70 80 90 100
LRVQRSDAGI SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM
110 120 130 140 150
LESPISSLYQ AVRQVFAPML LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR
160 170 180 190 200
RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI EQAHRGNKQI SKERANYFKE
210 220 230 240 250
LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH DHYPESRMLH
260 270 280 290 300
LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
310 320 330 340 350
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA
360 370 380 390 400
SEEKIICLTR VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA
410 420 430 440 450
GKLKNYISEI QDSPQQLLQA FLKYKELVKR PTISKELMLE RETLLARLVD
460 470 480 490 500
SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS EVVNSIVWVR QLELKVDDTI
510 520 530 540 550
KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR DIQSGLSDSR
560 570 580 590 600
SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
610 620 630 640 650
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII
660 670 680 690 700
KNSKAGSGGK SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC
710 720 730 740 750
EKVVVLMNID LLRQQQRWKD GLQELRTGLA TVEAQGFQAS DMHAWKQHWN
760 770 780 790 800
HQLYKALEHQ YQMGLEALNE NLPEINIDLT YKQGRLQFRP PFEEIRAKYY
810 820 830 840 850
REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF SKAEDLFRRL
860 870 880 890 900
SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
910 920 930 940 950
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT
960 970 980 990 1000
EAMEVLTIMP QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV
1010 1020 1030 1040 1050
AGGGLETISN LKAKWDKFEL MMESHQLMIK DQIEVMKGNV KSRLQIYYQE
1060 1070 1080 1090 1100
LEKFKARWDQ LKPGDDVIET GQHNTLDKSA KLIKEKKIEF DDLEVTRKKL
1110 1120 1130 1140 1150
VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG FQEMANEDWI
1160 1170 1180 1190 1200
TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
1210 1220 1230 1240 1250
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL
1260 1270 1280 1290 1300
NSRAQGEVTI REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN
1310 1320 1330 1340 1350
QVGDNRCLLQ SLKDSPYYKG FEDKVSIWER KLAELDEYLQ NLNHIQRKWV
1360 1370 1380 1390 1400
YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT DIKKDNRVTT LTTHAGIRNS
1410 1420 1430 1440 1450
LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI LGQSTNPSVI
1460 1470 1480 1490 1500
QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
1510 1520 1530 1540 1550
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED
1560 1570 1580 1590 1600
VENAIKDHSL HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI
1610 1620 1630 1640 1650
LDIIHNIDVV KQLNQIQVHT TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ
1660 1670 1680 1690 1700
YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK MGLGGNPYGP AGTGKTESVK
1710 1720 1730 1740 1750
ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF DEFNRLEESV
1760 1770 1780 1790 1800
LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
1810 1820 1830 1840 1850
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN
1860 1870 1880 1890 1900
LSRELLTPQQ HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ
1910 1920 1930 1940 1950
ALRLNTMSKF TFTDCTRFDA LIKDVFPGIE LKEVEYDELS AALKQVFEEA
1960 1970 1980 1990 2000
NYEIIPNQIK KALELYEQLC QRMGVVIVGP SGAGKSTLWR MLRAALCKTG
2010 2020 2030 2040 2050
KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ VVREPQDVSS
2060 2070 2080 2090 2100
WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
2110 2120 2130 2140 2150
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE
2160 2170 2180 2190 2200
KALQWVLKQN DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL
2210 2220 2230 2240 2250
NMKSRLEFTK EVFHWARESP PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT
2260 2270 2280 2290 2300
ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS SDTKQPFILV GPEGCGKGML
2310 2320 2330 2340 2350
LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST NTGRVYRPKD
2360 2370 2380 2390 2400
CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
2410 2420 2430 2440 2450
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL
2460 2470 2480 2490 2500
HKNLKNHSIW GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT
2510 2520 2530 2540 2550
QWVLGLFRYD LEGGSSNHPL DYVLEIVAYE ARRLFRDKIV GAKELHLFDI
2560 2570 2580 2590 2600
ILTSVFQGDW GSDILDNMSD SFYVTWGARH NSGARAAPGQ PLPPHGKPLG
2610 2620 2630 2640 2650
KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI DRVLSFPGGS
2660 2670 2680 2690 2700
LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
2710 2720 2730 2740 2750
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP
2760 2770 2780 2790 2800
LKDQASQDGF FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH
2810 2820 2830 2840 2850
KKCQVLWMEG WSNSSMKKIP EMLFSETGGG EKYNDKKRKE EKKKNSVDPD
2860 2870 2880 2890 2900
FLKSFLLIHE SCKAYGATPS RYMTFLHVYS AISSSKKKEL LKRQSHLQAG
2910 2920 2930 2940 2950
VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT VSMQDASEQK
2960 2970 2980 2990 3000
TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
3010 3020 3030 3040 3050
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF
3060 3070 3080 3090 3100
DARNISKEIR ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS
3110 3120 3130 3140 3150
HVLERIHPLE TEQAGLESNL KKTEDRKRKL EELLNSVGQK VSELKEKFQS
3160 3170 3180 3190 3200
RTSEAAKLEA EVSKAQETIK AAEVLINQLD REHKRWNAQV VEITEELATL
3210 3220 3230 3240 3250
PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL RRFLCTESEQ
3260 3270 3280 3290 3300
LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
3310 3320 3330 3340 3350
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR
3360 3370 3380 3390 3400
YVVQIGDKII DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR
3410 3420 3430 3440 3450
GQLLALTIQH EKPDLEEQKT KLLQQEEDKK IQLAKLEESL LETLATSQGN
3460 3470 3480 3490 3500
ILENKDLIES LNQTKASSAL IQESLKESYK LQISLDQERD AYLPLAESAS
3510 3520 3530 3540 3550
KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT EQRIQSLISS
3560 3570 3580 3590 3600
LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
3610 3620 3630 3640 3650
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT
3660 3670 3680 3690 3700
YYNNSMCEQE FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL
3710 3720 3730 3740 3750
KEVSPLPLNL KRLYKETLEI EPILIIISPG ADPSQELQEL ANAERSGECY
3760 3770 3780 3790 3800
HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK NLHLVVSWLP VLEKELNTLQ
3810 3820 3830 3840 3850
PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL MRTYESWTPE
3860 3870 3880 3890 3900
QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
3910 3920 3930 3940 3950
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS
3960 3970 3980 3990 4000
SVIDVFNQRN KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA
4010 4020 4030 4040 4050
NIARSSQRMI SSQVISQLRI LGRSITAGSK FDREIWSNEL SPVLNLWKKL
4060 4070 4080 4090 4100
NQNSNLIHQK VPPPNDRQGS PILSFIILEQ FNAIRLVQSV HQSLAALSKV
4110 4120 4130 4140 4150
IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY LRGLVARALA
4160 4170 4180 4190 4200
IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
4210 4220 4230 4240 4250
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM
4260 4270 4280 4290 4300
GWIPQDACGP YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA

ALFLKNQ
Length:4,307
Mass (Da):492,622
Last modified:November 2, 2010 - v4
Checksum:i54B60DEE419B7E9D
GO
Isoform 2 (identifier: Q8NCM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3273-3273: Q → QIIGLKSW

Note: No experimental confirmation available.
Show »
Length:4,314
Mass (Da):493,420
Checksum:i5727DDAAA0693332
GO
Isoform 3 (identifier: Q8NCM8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     736-4122: Missing.

Note: No experimental confirmation available.
Show »
Length:920
Mass (Da):105,369
Checksum:i6CBCEEF9DEF5869D
GO

Sequence cautioni

The sequence BAB13905 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04578 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD18598 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti174D → G in BAE17138 (Ref. 1) Curated1
Sequence conflicti178F → L in BAE17138 (Ref. 1) Curated1
Sequence conflicti594F → L in BAE17138 (Ref. 1) Curated1
Sequence conflicti1120I → N in AAB09728 (PubMed:8666668).Curated1
Sequence conflicti1168D → V in AAB09728 (PubMed:8666668).Curated1
Sequence conflicti1784N → H in CAB06054 (PubMed:9373155).Curated1
Sequence conflicti1864W → Y in CAB06054 (PubMed:9373155).Curated1
Sequence conflicti1866 – 1867LR → FS in CAB06054 (PubMed:9373155).Curated2
Sequence conflicti1930E → K in BAE46899 (Ref. 1) Curated1
Sequence conflicti3095A → V in CAD98012 (PubMed:17974005).Curated1
Sequence conflicti3665L → P in CAD98012 (PubMed:17974005).Curated1
Sequence conflicti4258C → R in BAB13905 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063242209F → I in SRTD3. 1 PublicationCorresponds to variant rs771511132dbSNPEnsembl.1
Natural variantiVAR_038862302T → P.Corresponds to variant rs12803695dbSNPEnsembl.1
Natural variantiVAR_038863304Q → L.Corresponds to variant rs12146610dbSNPEnsembl.1
Natural variantiVAR_069591330R → C in SRTD3. 2 PublicationsCorresponds to variant rs397514637dbSNPEnsembl.1
Natural variantiVAR_069592338R → G in SRTD3. 1 Publication1
Natural variantiVAR_038864341H → Y.Corresponds to variant rs17301182dbSNPEnsembl.1
Natural variantiVAR_069593430R → C in SRTD3. 1 PublicationCorresponds to variant rs374073337dbSNPEnsembl.1
Natural variantiVAR_038865456R → Q.Corresponds to variant rs17099969dbSNPEnsembl.1
Natural variantiVAR_069594495K → R in SRTD3. 1 Publication1
Natural variantiVAR_063243587R → C in SRTD3. 1 PublicationCorresponds to variant rs137853030dbSNPEnsembl.1
Natural variantiVAR_038866789R → K.Corresponds to variant rs7358374dbSNPEnsembl.1
Natural variantiVAR_069595871L → P in SRTD3. 1 Publication1
Natural variantiVAR_0388671221R → K.Corresponds to variant rs12794914dbSNPEnsembl.1
Natural variantiVAR_0695961228L → I in SRTD3. 1 PublicationCorresponds to variant rs189806840dbSNPEnsembl.1
Natural variantiVAR_0632441240I → T in SRTD3. 2 PublicationsCorresponds to variant rs137853028dbSNPEnsembl.1
Natural variantiVAR_0388681288T → A.Corresponds to variant rs17301750dbSNPEnsembl.1
Natural variantiVAR_0695971379M → V in SRTD3. 1 Publication1
Natural variantiVAR_0388691413K → R.1 PublicationCorresponds to variant rs688906dbSNPEnsembl.1
Natural variantiVAR_0695981423R → C in SRTD3. 1 PublicationCorresponds to variant rs745870321dbSNPEnsembl.1
Natural variantiVAR_0695991442G → D in SRTD3. 1 PublicationCorresponds to variant rs763571787dbSNPEnsembl.1
Natural variantiVAR_0632451537Q → R in SRTD3. Corresponds to variant rs137853033dbSNPEnsembl.1
Natural variantiVAR_0632461987T → A in SRTD3. 1 PublicationCorresponds to variant rs137853035dbSNPEnsembl.1
Natural variantiVAR_0696001991M → K in SRTD3. 1 Publication1
Natural variantiVAR_0632471991M → L in SRTD3. 1 PublicationCorresponds to variant rs137853025dbSNPEnsembl.1
Natural variantiVAR_0632482205R → H in SRTD3. 1 PublicationCorresponds to variant rs137853031dbSNPEnsembl.1
Natural variantiVAR_0696012227M → V in SRTD3. 1 PublicationCorresponds to variant rs750249486dbSNPEnsembl.1
Natural variantiVAR_0696022304A → T in SRTD3. 1 PublicationCorresponds to variant rs747348765dbSNPEnsembl.1
Natural variantiVAR_0696032362N → S in SRTD3. 1 Publication1
Natural variantiVAR_0632492461G → V in SRTD3. 1 PublicationCorresponds to variant rs137853034dbSNPEnsembl.1
Natural variantiVAR_0696042481R → Q in SRTD3. 1 PublicationCorresponds to variant rs781326398dbSNPEnsembl.1
Natural variantiVAR_0696052496P → S in SRTD3. 1 PublicationCorresponds to variant rs397514636dbSNPEnsembl.1
Natural variantiVAR_0696062532R → W in SRTD3. 1 Publication1
Natural variantiVAR_0696072555V → M in SRTD3. 1 Publication1
Natural variantiVAR_0696082573Y → C in SRTD3. 1 Publication1
Natural variantiVAR_0696092640I → T in SRTD3. 1 Publication1
Natural variantiVAR_0696102662R → Q in SRTD3. 1 PublicationCorresponds to variant rs397514635dbSNPEnsembl.1
Natural variantiVAR_0696112819I → M in SRTD3. 1 Publication1
Natural variantiVAR_0388702871R → Q.2 PublicationsCorresponds to variant rs589623dbSNPEnsembl.1
Natural variantiVAR_0632503015D → G in SRTD3. 2 PublicationsCorresponds to variant rs137853027dbSNPEnsembl.1
Natural variantiVAR_0696123381P → L in SRTD3. 1 PublicationCorresponds to variant rs368631447dbSNPEnsembl.1
Natural variantiVAR_0388713680A → V.1 PublicationCorresponds to variant rs10895391dbSNPEnsembl.1
Natural variantiVAR_0632513762L → V in SRTD3. 1 Publication1
Natural variantiVAR_0696133806R → C in SRTD3. 1 PublicationCorresponds to variant rs754753584dbSNPEnsembl.1
Natural variantiVAR_0696143847W → G in SRTD3. 1 PublicationCorresponds to variant rs752554582dbSNPEnsembl.1
Natural variantiVAR_0696153909G → D Probable disease-associated mutation found in short rib-polydactyly syndrome 3/6; digenic inheritance; the patient also carries a mutation in NEK1. 1 PublicationCorresponds to variant rs201479015dbSNPEnsembl.1
Natural variantiVAR_0388723976S → N.Corresponds to variant rs4754914dbSNPEnsembl.1
Natural variantiVAR_0388734139Q → P.Corresponds to variant rs1793493dbSNPEnsembl.1
Natural variantiVAR_0696164232L → R in SRTD3. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031282736 – 4122Missing in isoform 3. 1 PublicationAdd BLAST3387
Alternative sequenceiVSP_0312833273Q → QIIGLKSW in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB231765 mRNA. Translation: BAE46899.1.
AB231766 mRNA. Translation: BAE17138.1.
AP000817 Genomic DNA. No translation available.
AP001486 Genomic DNA. No translation available.
AP002829 Genomic DNA. No translation available.
AP002961 Genomic DNA. No translation available.
AP003382 Genomic DNA. No translation available.
AP003461 Genomic DNA. No translation available.
AK021818 mRNA. Translation: BAB13905.1. Different initiation.
AK095579 mRNA. Translation: BAC04578.1. Different initiation.
AK125524 mRNA. Translation: BAC86194.1.
AK131453 mRNA. Translation: BAD18598.1. Different initiation.
U53531 mRNA. Translation: AAB09728.1.
U20552 mRNA. Translation: AAB50020.1.
Z83800 mRNA. Translation: CAB06054.1.
BX538093 mRNA. Translation: CAD98012.1.
AB082528 mRNA. Translation: BAC02706.2.
CCDSiCCDS44717.1. [Q8NCM8-2]
CCDS53701.1. [Q8NCM8-1]
RefSeqiNP_001073932.1. NM_001080463.1. [Q8NCM8-2]
NP_001368.2. NM_001377.2. [Q8NCM8-1]
UniGeneiHs.503721.

Genome annotation databases

EnsembliENST00000334267; ENSP00000334021; ENSG00000187240. [Q8NCM8-3]
ENST00000375735; ENSP00000364887; ENSG00000187240. [Q8NCM8-1]
ENST00000398093; ENSP00000381167; ENSG00000187240. [Q8NCM8-2]
GeneIDi79659.
KEGGihsa:79659.
UCSCiuc001phn.2. human. [Q8NCM8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB231765 mRNA. Translation: BAE46899.1.
AB231766 mRNA. Translation: BAE17138.1.
AP000817 Genomic DNA. No translation available.
AP001486 Genomic DNA. No translation available.
AP002829 Genomic DNA. No translation available.
AP002961 Genomic DNA. No translation available.
AP003382 Genomic DNA. No translation available.
AP003461 Genomic DNA. No translation available.
AK021818 mRNA. Translation: BAB13905.1. Different initiation.
AK095579 mRNA. Translation: BAC04578.1. Different initiation.
AK125524 mRNA. Translation: BAC86194.1.
AK131453 mRNA. Translation: BAD18598.1. Different initiation.
U53531 mRNA. Translation: AAB09728.1.
U20552 mRNA. Translation: AAB50020.1.
Z83800 mRNA. Translation: CAB06054.1.
BX538093 mRNA. Translation: CAD98012.1.
AB082528 mRNA. Translation: BAC02706.2.
CCDSiCCDS44717.1. [Q8NCM8-2]
CCDS53701.1. [Q8NCM8-1]
RefSeqiNP_001073932.1. NM_001080463.1. [Q8NCM8-2]
NP_001368.2. NM_001377.2. [Q8NCM8-1]
UniGeneiHs.503721.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RH7X-ray3.41A1091-4307[»]
ProteinModelPortaliQ8NCM8.
SMRiQ8NCM8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122785. 27 interactors.
IntActiQ8NCM8. 19 interactors.
MINTiMINT-8188622.
STRINGi9606.ENSP00000381167.

PTM databases

iPTMnetiQ8NCM8.
PhosphoSitePlusiQ8NCM8.

Polymorphism and mutation databases

BioMutaiDYNC2H1.
DMDMi311033479.

Proteomic databases

EPDiQ8NCM8.
MaxQBiQ8NCM8.
PaxDbiQ8NCM8.
PeptideAtlasiQ8NCM8.
PRIDEiQ8NCM8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334267; ENSP00000334021; ENSG00000187240. [Q8NCM8-3]
ENST00000375735; ENSP00000364887; ENSG00000187240. [Q8NCM8-1]
ENST00000398093; ENSP00000381167; ENSG00000187240. [Q8NCM8-2]
GeneIDi79659.
KEGGihsa:79659.
UCSCiuc001phn.2. human. [Q8NCM8-1]

Organism-specific databases

CTDi79659.
DisGeNETi79659.
GeneCardsiDYNC2H1.
HGNCiHGNC:2962. DYNC2H1.
HPAiHPA039015.
HPA039016.
MalaCardsiDYNC2H1.
MIMi603297. gene.
613091. phenotype.
neXtProtiNX_Q8NCM8.
OpenTargetsiENSG00000187240.
Orphaneti474. Jeune syndrome.
93269. Short rib-polydactyly syndrome, Majewski type.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOVERGENiHBG107832.
InParanoidiQ8NCM8.
KOiK10414.
OMAiLFMKNLD.
OrthoDBiEOG091G0313.
PhylomeDBiQ8NCM8.
TreeFamiTF315251.

Enzyme and pathway databases

ReactomeiR-HSA-2132295. MHC class II antigen presentation.
R-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620924. Intraflagellar transport.
R-HSA-6807878. COPI-mediated anterograde transport.
R-HSA-6811436. COPI-independent Golgi-to-ER retrograde traffic.

Miscellaneous databases

ChiTaRSiDYNC2H1. human.
GeneWikiiDYNC2H1.
GenomeRNAii79659.
PROiQ8NCM8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187240.
ExpressionAtlasiQ8NCM8. baseline and differential.
GenevisibleiQ8NCM8. HS.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013594. Dynein_heavy_dom-1.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PfamiPF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08385. DHC_N1. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 3 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.
ProtoNetiSearch...

Entry informationi